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Cat-Map: putting cataract on the map.

Alan Shiels, Thomas M. Bennett, James Fielding Hejtmancik

PubMed · 2010 · Review

Abstract

Lens opacities, or cataract(s), may be inherited as a classic Mendelian disorder usually with early-onset or, more commonly, acquired with age as a multi-factorial or complex trait. Many genetic forms of cataract have been described in mice and other animal models. Considerable progress has been made in mapping and identifying the genes and mutations responsible for inherited forms of cataract, and genetic determinants of age-related cataract are beginning to be discovered. To provide a convenient and accurate summary of current information focused on the increasing genetic complexity of Mendelian and age-related cataract we have created an online chromosome map and reference database for cataract in humans and mice (Cat-Map).

Shown for reading. Its publisher allows quoting it, not republishing it.

Full text

From PubMed Central, U.S. National Library of Medicine, as current on Oct 18, 2026. Paragraph numbers are ours, so an answer can point at one.

1. Introduction

Cataract is a light-scattering disorder of the crystalline lens that despite surgical treatment remains an important cause of visual impairment in the United States and worldwide. Typically, cataract is acquired with age (>50 years) as a multi-factorial disorder involving complex interactions between genetic and environmental risk factors. In some cases however, cataract may be inherited as a classic Mendelian disorder (~1/10,000 births), either in association with other ocular and/or systemic abnormalities or, as an isolated lens phenotype. By contrast with age-related cataract, Mendelian forms of cataract can occur at any age, however, most have an early-onset either presenting at birth (congenital), during infancy, childhood or adolescence. Beyond age-at-onset both inherited and age-related forms of cataract are clinically heterogeneous with respect to location, size, shape, density and even color of opacity within the lens.

In 1968 an inherited form of isolated cataract, which had previously been linked to the Duffy blood group locus, became the first monogenic disorder in humans to be assigned to an autosome (chromosome 1). Since then, considerable progress has been made in mapping and identifying genes for inherited cataract mostly by linkage analysis in extended families. All three classical types of Mendelian inheritance have been described for familial cataract; however, the existence of Y-linked cataract remains to be confirmed. Similarly, genetic forms of cataract are also found in laboratory mice, and many spontaneous, chemical or radiation induced, and genetically engineered (transgenic and gene-targeted) mutant strains have been described. Many of the causative genes in mice are orthologs of those identified in humans, and these mutant strains provide valuable model systems to investigate human cataract.

In contrast to Mendelian cataract our understanding of the genetic determinants of complex age-related cataract is less well advanced. Candidate gene association studies are providing increasing evidence that variations in some of the genes linked with inherited forms of early-onset cataract are associated with the much more common forms of age-related cataract. However, the advent of genome-wide association studies predicts that the genetic diversity of age-related cataract will likely extend beyond known genes for inherited cataract.

In an effort to aid access to genetic information focused on cataract we have created an online chromosome map and reference database for inherited and age-related forms of cataract in humans and mice (Cat-Map). Genes and loci linked or associated with familial and acquired forms of primary cataract, respectively, were obtained by keyword searches of PubMed, Online Mendelian Inheritance in Man (OMIM), and other databases accessible through the National Center for Biotechnology Information (NCBI) website. Inheritance pattern, family or population origin, gene mutation or variation, cataract appearance, and any associated ocular or systemic phenotypes were also noted. Gene mutations and variations were numbered according to standard nomenclature recommendations starting with the A of the ATG start-codon. Genes and loci for syndromes with cataract and mouse mutants with cataract were also included. Data for each chromosome were formatted in Microsoft Excel and links provided to the EntrezGene and PubMed databases. Due to the need for regular updating of content we have not included chromosome tables with the present text. The most recent updates can be accessed at the Cat-Map website. Here we provide a brief overview of the genes underlying Mendelian and age-related forms of cataract in humans and mice.

2. Genes for Mendelian cataract

Mendelian forms of cataract are highly clinically heterogeneous and comprise a broad spectrum of genetic conditions. In a clinical setting it is pragmatic to distinguish between “syndromic” and “non-syndromic” forms of cataract based on the presence or absence of associated ocular and/or systemic abnormalities, respectively. However, it should be noted that these are relative, rather than precise, clinical terms essentially describing opposite phenotypic extremes of the cataract spectrum disorders. Some clinical overlap between syndromic and non-syndromic forms of cataract is inevitable largely because different mutations in a single gene can exhibit pleiotropic effects that result in distinct and seemingly unrelated phenotypes with variable onset, severity and course.

2.1 Genes for non-syndromic cataract

Non-syndromic forms of familial cataract present as an isolated or primary lens disorder in the absence of other clinically prominent phenotypes. Under slit-lamp examination non-syndromic familial cataract exhibits a diverse range of lens opacities including, total, nuclear, lamellar, sutural, and anterior/posterior polar or sub-capsular, however, there is no universally accepted classification system. Non-syndromic cataract also exhibits considerable inter- and intra-familial variation affecting age-at-onset, rate of progression, and post-surgical visual acuity. Moreover, relatively subtle ocular signs occasionally accompany primary cataract further complicating clinical classification. These pleiotropic effects may involve the anterior segment (e.g., microcornea), refractive error (e.g., myopia), and eye movement disorders (nystagmus, strabismus, amblyopia); further highlighting the importance of the lens in normal eye development and refractive vision. Non-syndromic forms of cataract may be grouped based on the known underlying genes, which currently include those coding for crystallins, membrane/cytoskeleton proteins and a transcription factor.

2.1.1 Crystallin genes

Around 60 different mutations segregating in some 98 families have been identified in 10 human crystallin genes, including those coding for both α-crystallins (CRYAA, 21q; CRYAB 11q), two acidic β-crystallins (CRYBA1, 17q; CRYBA4, 22q), three basic β-crystallins (CRYBB1, CRYBB2, and CRYBB3 all on 22q), and three γ-crystallins (CRYGC, 2q; CRYGD, 2q; and CRYGS, 3q). Generally, mutations in crystallin genes tend to cause nuclear or lamellar lens opacities. In addition to primary cataract, mutations in crystallin genes, particularly those in CRYAA, may be associated with microcornea. However, a noteworthy exception is that mutations in CRYAB may underlie cataract and/or myopathy phenotypes. Overall, crystallin mutations, mostly missense, account for about 50% of non-syndromic familial cataract reported so far.

Several unusually recurrent mutations in crystallin genes are noteworthy. First, a p.P24T missense substitution in CRYGD has been reported in eight families, and a p.P24S missense substitution has been shown to reflect the ancestral protein sequence found in non-primate mammals. Second, the apparent p.Q155X nonsense mutation in CRYBB2 in fact results from a gene conversion event with the adjacent CRYBB2 pseudogene. Interestingly, a rare case of a severely affected family member homozygous for the p.Q155X conversion mutation developed microphthalmia, microcornea, leukocoria, congenital nystagmus, and a dysplastic lens. Third, a splice (g.IVS+1G>A/C) or a deletion (p.G91del) mutation segregating in each of five families has been detected in CRYBA1 (17q), which encodes two acidic-beta crystallins (CRYBA3 and CRYBA1). Finally, recurrent arginine substitutions are common in CRYAA, CRYGD, and CRYGC.

In cataract mouse strains, over 30 spontaneous or induced mutations have been reported in ten crystallin genes. Over half of these strains carry mutations in six crystallin genes (Cryaa, Cryba1, Crybb2, Crygc, Crygd, and Crygs) that are syntenic with human counterparts linked with cataract, thereby providing relevant mouse models for human cataract. The remainder of the crystallin mutant strains, however, serves to highlight species differences between humans and mice. Whereas, all seven Cryg genes harbor mutations in mice (Cryga-f, Crygs); mutations in humans are restricted to CRYGC, CRYGD, and CRYGS. Moreover, two γ-crystallin genes in the mouse (Cryge, Crygf) are represented by pseudo-genes in humans (CRYGEP1, CRYGFP). Finally, mice null for Cryaa and Crybb2, but not Cryab, also develop cataract as do transgenic or knock-in mice harboring several humanized mutations in Cryaa (p.R116C, p.R49C).

2.1.2 Genes for membrane or cytoskeleton proteins

Mutations in at least ten other genes that encode membrane proteins or cytoskeletal proteins have been linked with about 35% of non-syndromic cataract, mostly with autosomal dominant inheritance. Mutations in many mouse counterparts of these human genes have also been reported.

2.1.2.1 Connexin genes

The genes for gap-junction proteins (or connexins) alpha-3 (GJA3, 13q) and alpha-8 (GJA8, 1q) harbor over 34 different mutations (mostly missense) segregating in about 38 families. Notably, one of the mutations in GJA8 (p.P88S) underlies the historically important “zonular pulverulent” cataract in an English family that was first linked to chromosome 1 in 1968. Similarly, a mutation in GJA3 (p.L11S) underlies the unusual “ant-egg” cataract described in a Danish family. Mutations in connexin genes are often associated with pulverulent (dust-like) nuclear opacities and, occasionally, GJA8 mutations are associated with microcornea. Combined, GJA3 and GJA8 mutations account for about 20% of non-syndromic familial cataract. In mice, homozygous loss of Gja3 or Gja8 results in cataract, whereas, heterozygous loss does not.

2.1.2.2 Genes for major intrinsic proteins

Mutations in the genes for major intrinsic protein (MIP, 12q), a member of the aquaporin family of water channels, and lens intrinsic membrane protein-2 (LIM2, 19q), a member of the PMP22/claudin family of cell-junction proteins, account for about 5% of familial cataract. All seven mutations in MIP are associated with autosomal dominant cataract, whereas, both mutations in LIM2 underlie autosomal recessive cataract. In mice, heterozygous loss of Mip is sufficient to trigger cataract, whereas, homozygous loss of Lim2 is required for cataract development.

2.1.2.3 Genes for other membrane-associated proteins

Several unexpected genes involved in membrane-associated signaling or transport processes are causative for about 5% of non-syndromic familial cataract. These include genes encoding: transmembrane protein-114 (TMEM114, 16p), a sequence homolog of LIM2 with unknown function; chromatin modifying protein-4B or charged multi-vesicular protein-4B (CHMP4B, 20q), a core component of the endosome sorting complex required for transport-III (ESCRT-III); and EPH receptor A2 (EPHA2, 1p), a key component of the Eph-ephrin bidirectional signaling pathway. In mice, no mutations in Tmem114 have been reported. Mice null for Epha2 develop cataract, whereas, Chmp4b null mice are embryonic lethal.

2.1.2.4 Genes for cytoskeleton proteins

Mutations in the genes for beaded-filament structural protein-1 (BFSP1, 20p) and protein-2 (BFSP2, 3q), which encode intermediate filament-like cytoskeletal proteins, constitute about 4% of familial cataract. A recurrent in-frame deletion mutation has been found in BFSP2 (p.E233del). Recently, missense mutations in the vimentin gene (VIM, 10p) have been associated with cataract in humans and mice. Surprisingly, homozygous loss of Vim, Bfsp1, or Bfsp2 is not sufficient to trigger overt cataract in mice, and several commonly used wild-type strains (e.g., 129, FVB) have been found to carry a naturally occurring deletion mutation in Bfsp2 that is associated with a subtle, progressive loss of optical quality.

2.1.3 Transcription factor genes

Mutations in the gene for heat-shock transcription factor-4 (HSF4, 16q) underlie about 6% of non-syndromic familial cataract. A missense mutation in HSF4 (p.R119C) segregates in the historically important Marner cataract family. Mice null or mutant for Hsf4 also develop cataract. Whereas, mutations in HSF4 appear to be restricted to an autosomal dominant or recessive cataract phenotype, mutations in several other transcription factors are usually associated with cataract plus other significant ocular defects (see below).

2.2 Genes for syndromic cataract

Syndromic forms of cataract present as a secondary or variably associated symptom of a genetic syndrome or metabolic disorder that features other defining ocular and/or systemic abnormalities. Under slit-lamp examination syndromic cataract shows variable phenotypes similar to those of non-syndromic opacities (e.g., sutural, posterior sub-capsular) that in some disorders constitute part of the differential diagnosis (e.g., Werner syndrome on 8q, Nance-Horan syndrome on Xp, and Lowe syndrome on Xq). The underlying genetic mechanisms are diverse and include: chromosome abnormalities (e.g., Down syndrome on 21), triplet repeat-disorders (e.g., myotonic dystrophy on 19q), loss-of-heterozygosity (e.g., neurofibromatosis type-2 on 22q), mitochondrial disorders (e.g., myopathy, encephalopathy, lactic acidosis and stroke-like, or MELAS, syndrome), and genetically complex disorders such as diabetes mellitus.

Other ocular defects associated with syndromic cataract vary widely affecting the optic nerve, retina, vitreous body, and anterior segment, including; Norrie disease (Xp), gyrate atrophy (10q), optic atrophy-3 (19q), aniridia/Peters anomaly (11p), and Stickler syndrome type-1 (12q). In particular, mutations in several genes for transcription factors including the homeobox genes, PAX6 (11q), FOXE3 (1q), PITX3 (10q) and VSX2 (14q), and the bZIP transcription factor V-MAF avian musculo-aponeurotic fibrosarcoma oncogene homolog (MAF, 16q) underlie cataract plus anterior segment developmental disorders and microphthalmia sometimes associated with secondary glaucoma. In one family with autosomal dominant posterior polar cataract, two siblings homozygous for a deletion mutation in PITX3 exhibited severe microphthalmia and neuro-developmental abnormalities. Mice with mutations in these transcription factor genes also inherit significant ocular phenotypes including; small-eye (Pax6/Sey), dysgenetic lens (Foxe3/dyl), aphakia (Pitx3/ak), eyeless (Pitx3/eyl), and ocular retardation (Vsx2/or-J). In addition, mice homozygous for the eyl allele of Pitx3 exhibit symptoms like Parkinson’s disease in humans.

Cataract has been associated with several relatively mild systemic defects that manifest after standard blood or urine laboratory-tests, and serve to highlight the sensitivity of the lens to certain metabolic stresses. Autosomal recessive galactokinase-deficiency cataract results from mutations in the gene coding for galactokinase-1 (GALK1, 17q), the first enzyme in galactose metabolism. GALK1 mutations affect the enzyme coding region resulting in decreased red blood cell galactokinase activity. Autosomal dominant hyperferritinemia-cataract syndrome results from non-coding mutations in the gene for ferritin light chain (FTL, 19q), an iron-storage protein. Specifically, these non-coding FTL mutations are, confined to the iron response element (IRE) located upstream of the coding region, and they result in increased serum ferritin levels. Mutations in the gene for glucosaminyl (N-acetyl) transferase-2 (GCNT2, 6p), a blood-group glycosylation enzyme, underlie autosomal recessive cataract associated with the adult i blood-group phenotype particularly in Japanese and Taiwanese populations. Finally, mutations in the gene for solute carrier family-16A member-12 (SLC16A12, 10q), a mono-carboxylic acid transporter, underlie autosomal dominant juvenile cataract plus microcornea and renal glucosuria. In mice, no mutations in the IRE sequence of Ftl have been reported. Mice null for Gcnt2 do not develop early-onset cataract, and mice null for Galk1 do not develop cataract unless they are also transgenic for human aldose reductase.

Cataract can also present as one aspect of a constellation of relatively severe systemic abnormalities including neurologic disorders (e.g., Cockayne syndrome on 5q and 10q, Walker-Warburg syndrome on 9q and 14q, and Smith-Lemli-Opitz syndrome on 11q). Autosomal dominant forms of systemic cataract include: neurofibromatosis type-2 (NF2, 22q), myotonic dystrophy (DMPK/SIX5, 19q), Marfan syndrome (FBN1, 15q), and brachio-oto-renal-syndrome-1 (EYA1, 8q). Notable autosomal recessive forms of systemic cataract include; inborn errors affecting galactose metabolism (GALT, 9p; GALE,1p) and cholesterol biosynthesis (DHCR7, 11q; CYP27A1, 2q), the premature aging (progeroid) disorders, Werner syndrome (WRN, 8p) and Rothmund Thompson syndrome (RECQL4, 8q), and the spectrum of peroxisomal biogenesis disorders, which include Zellweger syndrome, neonatal adreno-leuko-dystrophy and rhizomelic chondroplasia punctata type-1 (1p, 1q, 6q, 7q, 12p, and 22q).

Finally, the X chromosome alone harbors over 15 syndromic forms of cataract including; the renal disorders - Lowe’s syndrome (OCRL) and Alport syndrome (COL4A5), the lysosomal storage disorder - Fabry’s disease (GLA), and the Nance-Horan cataract-dental syndrome (NHS). Recently, mutations underlying full-blown NHS have been predicted to result in the absence of functional NHS protein (effectively a null), whereas, copy number variations (CNVs) in the NHS gene result in the less severe allelic phenotype of isolated X-linked cataract (CXN). Mice mutant for Nhs also develop cataract.

2.3 Novel genes for Mendelian cataract

Cat-Map includes at least 16 “orphan” loci for inherited forms of cataract at which the underlying genes remain to be discovered. These include about eleven loci for autosomal dominant cataract (1p, 1q, 2p, 2q, 3q, 14q, 15q, 17p, 17q, 19q, and 20p), four loci for autosomal recessive cataract (3p, 7q, 9q, and 19q), and one for X-linked cataract (Xq). In addition, at least 13 genes harboring spontaneous or targeted mutations have been associated with a lens or cataract phenotype in mice but not yet in humans (Ankb, Bin3, Dock5, Dnase2b, Efna5, Gjf1, Gpr161, Gpx1, Hip1, Nrcam, Prox1, Six5, and Sparc). Interestingly, none of these mouse genes are syntenic with the orphan cataract loci in humans. Genotype-phenotype discrepancies between mice and humans are likely to be found. For instance, mice lacking Six5 develop cataract, whereas, mutations in human SIX5 are associated with branchio-oto-renal syndrome type-2. Nevertheless, the combined list of orphan loci and mouse mutants suggests that a substantial number of genes for Mendelian forms of cataract remain to be discovered.

3. Genes for age-related cataract

Age-related cataract usually presents after the 4th decade and based on slit-lamp examination may be divided into three clinical types referred to as; nuclear cataract, cortical cataract, and posterior sub-capsular cataract. Each can occur in isolation or in combination (mixed cataract), and may progress to total opacification of the lens.

Genetic epidemiological studies of affected twins and siblings predict that genetic risk factors may account for 14%–48% of the heritability for nuclear cataract, and 24%–75% of the heritability for cortical cataract. Overall, age-related cataract is less phenotypically variable than Mendelian forms of cataract, however, the genetic complexity of the former remains largely unknown.

Intuitively, genes underlying Mendelian forms of cataract represent plausible candidates for genetic determinants of age-related cataract. So far, variations in at least eight genes linked with inherited cataract have been associated with age-related cataract. These include EPHA2 (1p), GJA8 (1q), GALT (9p), SLC16A12 (10q), HSF4 (16q), GALK1 (17q), FTL (19q), and CRYAA (21q). Notably however, the triplet nucleotide (CTG)n repeat expansions underlying adult-onset cataract associated with myotonic dystrophy do not represent a significant risk factor for age-related cataract in the general population.

Finally, variations in at least ten other genes not directly associated with inherited cataract have been tentatively implicated in age-related cataract. These include genes that function in antioxidant metabolism (GSTM1, 1p; GSTT1, 22q), xenobiotic detoxification (NAT2, 8p), DNA repair (ERCC2, 19q), folate metabolism (MTHFR, 1p), lactose metabolism (LCT, 2q), RNA demethylation (FTO, 16q), lipid/cholesterol transport (APOE4, 19q), kinesin/microtubule motor transport (KLC1, 14q), and one of unknown identity (ARCC1, 6cen).

4. Summary and outlook

Currently, Cat-Map totals almost 200 genes and loci for Mendelian and age-related forms of human cataract spread across all 22 autosomes and the X-chromosome. At least 35 independent loci, including over 20 known genes, have been identified for non-syndromic cataract segregating most often as an autosomal dominant trait with high penetrance in over 190 families worldwide. As much as 70% of autosomal dominant cataract may be accounted for by missense coding mutations in the genes for crystallins, particularly CRYAA, CRYBB2, and CRYGD, and connexins (GJA3, GJA8). Cat-Map also includes over 130 genes and loci for syndromic forms of cataract, many associated with neurologic abnormalities, and over 70 mouse mutants with cataract, some of which point to novel genes for human cataract. Finally, variations in at least eight genes underlying genetic forms of cataract (EPHA2, GJA8, GALT, SLC16A12, HSF4, GALK1, FTL, and CRYAA), and at least 10 other diverse genes have been associated to varying degrees with age-related cataract. Collectively, however, the currently implicated genes are likely to account for a relatively small proportion of the genetic risk for age-related cataract.

The extensive clinical and genetic heterogeneity of Mendelian and age-related forms of cataract limits efforts to make informative genotype-phenotype correlations. Mutations in the same gene may result in different phenotypes. For example, CRYAA mutations can result in cataract +/− microcornea, whereas, CRYAB mutations can result in cataract and/or myopathy. Similarly, mutations or variations in EPHA2, HSF4, and CRYAA are each associated with autosomal dominant, autosomal recessive and age-related forms of cataract. By contrast, mutations in different genes can result in similar phenotypes. For example, mutations in multiple genes have been associated with cataract plus microcornea (e.g., MAF, CRYAA, and GJA8), posterior polar cataract (e.g., PITX3, EPHA2, CHMP4B, and NF2), or sutural cataract (e.g., BFSP2, CRYAB, and NHS). Further, an increasing number of genes have been associated with age-related cataract especially cortical or mixed types (e.g., EPHA2, HSF4, and CRYAA). It is likely that the clinical and genetic heterogeneity of cataract will continue to expand particularly in cases where a non-lens phenotype may present long after the diagnosis of early-onset cataract. Recently, variations in CRYAB and PITX3 have been associated with increased susceptibility to multiple sclerosis and Parkinson’s disease, respectively, raising awareness about the possibility of acquired neurodegenerative conditions in certain patients with early-onset cataract. Such observations support the notion that a gene-based system will enable a more informative clinical classification of the cataract spectrum disorders.

In the future, family-based linkage studies and case-control association studies in different populations will continue to identify, test and validate genetic determinants of inherited and age-related forms of cataract. Moreover, the advent of next-generation sequencing techniques capable of rapidly deciphering genomic variation in large numbers of individuals will provide powerful insights regarding the molecular genetic basis of cataract; including gene-gene and gene-environment interactions. Ultimately, a comprehensive understanding of the genomic determinants of cataract, coupled with improved phenotyping of animal models, will not only enhance understanding of the molecular biology of lens development and aging but also may translate into non-surgical treatments for cataract, or even lifestyle interventions (e.g., diet) that help to prevent cataract.

In summary, Cat-Map provides a curated portal to access peer-reviewed literature (PubMed) and bioinformatics (EntrezGene) focused on the genetic causes of cataract in humans and mice, and a gene-centric basis to aid clinical classification of cataract.

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    Bornheim R Muller M Reuter U Herrmann H Bussow H Magin TM A dominant vimentin mutant upregulates Hsp70 and the activity of the ubiquitin-proteasome system, and causes posterior cataracts in transgenic mice.J Cell Sci2008 121373746

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  33. 33.

    Müller M Bhattacharya SS Moore T Prescott Q Wedig T Herrmann H Magin TM Dominant cataract formation in association with a vimentin assembly disrupting mutation.Hum Mol Genet2009 1810527

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  34. 34.

    Colucci-Guyon E Portier MM Dunia I Paulin D Pournin S Babinet C Mice lacking vimentin develop and reproduce without an obvious phenotype.Cell1994 7967994

    Not in our library10.1016/0092-8674(94)90553-3

  35. 35.

    Alizadeh A Clark JI Seeberger T Hess J Blankenship T Spicer A FitzGerald PG Targeted genomic deletion of the lens-specific intermediate filament protein CP49.Invest Ophthalmol Vis Sci2002 4337227

    Not in our library

  36. 36.

    Alizadeh A Clark J Seeberger T Hess J Blankenship T FitzGerald PG Targeted deletion of the lens fiber cell-specific intermediate filament protein filensin.Invest Ophthalmol Vis Sci2003 4452528

    Not in our library10.1167/iovs.03-0224

  37. 37.

    Alizadeh A Clark J Seeberger T Hess J Blankenship T FitzGerald PG Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse.Invest Ophthalmol Vis Sci2004 4588491

    Not in our library10.1167/iovs.03-0677

  38. 38.

    Simirskii VN Lee RS Wawrousek EF Duncan MK Inbred FVB/N mice are mutant at the cp49/Bfsp2 locus and lack beaded filament proteins in the lens.Invest Ophthalmol Vis Sci2006 4749314

    Not in our library10.1167/iovs.06-0423

  39. 39.

    Bu L Jin Y Shi Y Chu R Ban A Eiberg H Andres L Jiang H Zheng G Qian M Cui B Xia Y Liu J Hu L Zhao G Hayden MR Kong X Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.Nat Genet2002 312768

    Not in our library10.1038/ng921

  40. 40.

    Lin HJ Huang YC Lin JM Wu JY Chen LA Lin CJ Tsui YP Chen CP Tsai FJ Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of Type 2 diabetes with cataract.Mol Vis2010 16120614

    Not in our library

  41. 41.

    Gould DB John SW Anterior segment dysgenesis and the developmental glaucomas are complex traits.Hum Mol Genet2002 11118593

    Not in our library10.1093/hmg/11.10.1185

  42. 42.

    Bidinost C Matsumoto M Chung D Salem N Zhang K Stockton DW Khoury A Megarbane A Bejjani BA Traboulsi EI Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.Invest Ophthalmol Vis Sci2006 47127480

    Not in our library10.1167/iovs.05-1095

  43. 43.

    Rosemann M Ivashkevich A Favor J Dalke C Holter SM Becker L Racz I Bolle I Klempt M Rathkolb B Kalaydjiev S Adler T Aguilar A Hans W Horsch M Rozman J Calzada-Wack J Kunder S Naton B Gailus-Durner V Fuchs H Schulz H Beckers J Busch DH Burbach JP Smidt MP Quintanilla-Martinez L Esposito I Klopstock T Klingenspor M Ollert M Wolf E Wurst W Zimmer A de Angelis MH Atkinson M Heinzmann U Graw J Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 (416insG) mice.Mamm Genome2010 211327

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  44. 44.

    Bosch AM Bakker HD van Gennip AH van Kempen JV Wanders RJ Wijburg FA Clinical features of galactokinase deficiency: a review of the literature.J Inherit Metab Dis2002 2562934

    Not in our library10.1023/a:1022875629436

  45. 45.

    Lachlan KL Temple IK Mumford AD Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.Eur J Hum Genet2004 127906

    Not in our library10.1038/sj.ejhg.5201252

  46. 46.

    Yu LC Twu YC Chang CY Lin M Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.Blood2001 9838405

    Not in our library10.1182/blood.v98.13.3840

  47. 47.

    Pras E Raz J Yahalom V Frydman M Garzozi HJ Pras E Hejtmancik JF A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.Invest Ophthalmol Vis Sci2004 4519405

    Not in our library10.1167/iovs.03-1117

  48. 48.

    Kloeckener-Gruissem B Vandekerckhove K Nurnberg G Neidhardt J Zeitz C Nurnberg P Schipper I Berger W Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.Am J Hum Genet2008 827729

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  49. 49.

    Chen GY Muramatsu H Kondo M Kurosawa N Miyake Y Takeda N Muramatsu T Abnormalities caused by carbohydrate alterations in Ibeta6-N-acetylglucosaminyltransferase-deficient mice.Mol Cell Biol2005 25782838

    Not in our library10.1128/mcb.25.17.7828-7838.2005

  50. 50.

    Ai Y Zheng Z O'Brien-Jenkins A Bernard DJ Wynshaw-Boris T Ning C Reynolds R Segal S Huang K Stambolian D A mouse model of galactose-induced cataracts.Hum Mol Genet2000 918217

    Not in our library10.1093/hmg/9.12.1821

  51. 51.

    Coccia M Brooks SP Webb TR Christodoulou K Wozniak IO Murday V Balicki M Yee HA Wangensteen T Riise R Saggar AK Park SM Kanuga N Francis PJ Maher ER Moore AT Russell-Eggitt IM Hardcastle AJ X-linked cataract and Nance-Horan syndrome are allelic disorders.Hum Mol Genet2009 18264355

    Not in our library10.1093/hmg/ddp206

  52. 52.

    Huang KM Wu J Duncan MK Moy C Dutra A Favor J Da T Stambolian D Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.Hum Mol Genet2006 1531927

    Not in our library10.1093/hmg/ddi449

  53. 53.

    Eiberg H Lund AM Warburg M Rosenberg T Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.Hum Genet1995 96338

    Not in our library10.1007/bf00214183

  54. 54.

    Wang L Lin H Shen Y Huang S Gu J Su H Qi Y A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.Mol Vis2007 13135762

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  55. 55.

    Gao L Qin W Cui H Feng G Liu P Gao W Ma L Li P He L Fu S A novel locus of coralliform cataract mapped to chromosome 2p24-pter.J Hum Genet2005 5030510

    Not in our library10.1007/s10038-005-0251-y

  56. 56.

    Khaliq S Hameed A Ismail M Anwar K Mehdi SQ A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.Invest Ophthalmol Vis Sci2002 4320837

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    Abouzeid H Meire FM Osman I ElShakankiri N Bolay S Munier FL Schorderet DF A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.Ophthalmology2009 11615462.e1

    Not in our library10.1016/j.ophtha.2008.08.044

  58. 58.

    Liu G Li Y Ruan Y Cao W Xin L Qian J Gu J A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.Mol Vis2010 168749

    Not in our library

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    Not in our library10.1136/jmg.2005.034876

  60. 60.

    Vanita Sarhadi VK Singh D Reis A Rueschendorf F Becker-Follmann J Jung M Sperling K A novel form of “central pouchlike” cataract, with sutural opacities, maps to chromosome 15q21–22.Am J Hum Genet2001 6850914

    Not in our library10.1086/318189

  61. 61.

    Berry V Ionides AC Moore AT Plant C Bhattacharya SS Shiels A A locus for autosomal dominant anterior polar cataract on chromosome 17p.Hum Mol Genet1996 54159

    Not in our library10.1093/hmg/5.3.415

  62. 62.

    Armitage MM Kivlin JD Ferrell RE A progressive early onset cataract gene maps to human chromosome 17q24.Nat Genet1995 93740

    Not in our library10.1038/ng0195-37

  63. 63.

    Bateman JB Richter L Flodman P Burch D Brown S Penrose P Paul O Geyer DD Brooks DG Spence MA A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes.Invest Ophthalmol Vis Sci2006 4734419

    Not in our library10.1167/iovs.05-1035

  64. 64.

    Li N Yang Y Bu J Zhao C Lu S Zhao J Yan L Cui L Zheng R Li J Tang J Zhao K An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23.Mol Vis2006 12150610

    Not in our library

  65. 65.

    Zhang S Liu M Dong JM Yin K Wang P Bu J Li J Hao YS Hao P Wang QK Wang L Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family.Mol Vis2008 1418937

    Not in our library

  66. 66.

    Pras E Pras E Bakhan T Levy-Nissenbaum E Lahat H Assia EI Garzozi HJ Kastner DL Goldman B Frydman M A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.Isr Med Assoc J2001 355962

    Not in our library

  67. 67.

    Kaul H Riazuddin SA Yasmeen A Mohsin S Khan M Nasir IA Khan SN Husnain T Akram J Hejtmancik JF Riazuddin S A new locus for autosomal recessive congenital cataract identified in a Pakistani family.Mol Vis2010 162405

    Not in our library

  68. 68.

    Héon E Paterson AD Fraser M Billingsley G Priston M Balmer A Schorderet DF Verner A Hudson TJ Munier FL A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.Am J Hum Genet2001 687727

    Not in our library10.1086/318798

  69. 69.

    Forshew T Johnson CA Khaliq S Pasha S Willis C Abbasi R Tee L Smith U Trembath RC Mehdi SQ Moore AT Maher ER Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.Hum Genet2005 1174529

    Not in our library10.1007/s00439-005-1309-9

  70. 70.

    Riazuddin SA Yasmeen A Zhang Q Yao W Sabar MF Ahmed Z Riazuddin S Hejtmancik JF A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.Invest Ophthalmol Vis Sci2005 466236

    Not in our library10.1167/iovs.04-0955

  71. 71.

    Craig JE Friend KL Gecz J Rattray KM Troski M Mackey DA Burdon KP A novel locus for X-linked congenital cataract on Xq24.Mol Vis2008 147216

    Not in our library

  72. 72.

    Moré MI Kirsch FP Rathjen FG Targeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formation.J Cell Biol2001 15418796

    Not in our library10.1083/jcb.200104038

  73. 73.

    Ramalingam A Duhadaway JB Sutanto-Ward E Wang Y Dinchuk J Huang M Donover PS Boulden J McNally LM Soler AP Muller AJ Duncan MK Prendergast GC Bin3 deletion causes cataracts and increased susceptibility to lymphoma during aging.Cancer Res2008 68168390

    Not in our library10.1158/0008-5472.can-07-6072

  74. 74.

    Omi N Kiyokawa E Matsuda M Kinoshita K Yamada S Yamada K Matsushima Y Wang Y Kawai J Suzuki M Hayashizaki Y Hiai H Mutation of Dock5, a member of the guanine exchange factor Dock180 superfamily, in the rupture of lens cataract mouse.Exp Eye Res2008 8682834

    Not in our library10.1016/j.exer.2008.02.011

  75. 75.

    Nishimoto S Kawane K Watanabe-Fukunaga R Fukuyama H Ohsawa Y Uchiyama Y Hashida N Ohguro N Tano Y Morimoto T Fukuda Y Nagata S Nuclear cataract caused by a lack of DNA degradation in the mouse eye lens.Nature2003 42410714

    Not in our library10.1038/nature01895

  76. 76.

    Cooper MA Son AI Komlos D Sun Y Kleiman NJ Zhou R Loss of ephrin-A5 function disrupts lens fiber cell packing and leads to cataract.Proc Natl Acad Sci USA2008 105166205

    Not in our library10.1073/pnas.0808987105

  77. 77.

    Puk O Loster J Dalke C Soewarto D Fuchs H Budde B Nurnberg P Wolf E de Angelis MH Graw J Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype.Invest Ophthalmol Vis Sci2008 49152532

    Not in our library10.1167/iovs.07-1033

  78. 78.

    Matteson PG Desai J Korstanje R Lazar G Borsuk TE Rollins J Kadambi S Joseph J Rahman T Wink J Benayed R Paigen B Millonig JH The orphan G protein-coupled receptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development.Proc Natl Acad Sci USA2008 105208893

    Not in our library10.1073/pnas.0705657105

  79. 79.

    Reddy VN Giblin FJ Lin LR Dang L Unakar NJ Musch DC Boyle DL Takemoto LJ Ho YS Knoernschild T Juenemann A Lutjen-Drecoll E Glutathione peroxidase-1 deficiency leads to increased nuclear light scattering, membrane damage, and cataract formation in gene-knockout mice.Invest Ophthalmol Vis Sci2001 42324755

    Not in our library

  80. 80.

    Oravecz-Wilson KI Kiel MJ Li L Rao DS Saint-Dic D Kumar PD Provot MM Hankenson KD Reddy VN Lieberman AP Morrison SJ Ross TS Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts.Hum Mol Genet2004 1385167

    Not in our library10.1093/hmg/ddh102

  81. 81.

    Wigle JT Chowdhury K Gruss P Oliver G Prox1 function is crucial for mouse lens-fibre elongation.Nat Genet1999 2131822

    Not in our library10.1038/6844

  82. 82.

    Klesert TR Cho DH Clark JI Maylie J Adelman J Snider L Yuen EC Soriano P Tapscott SJ Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy.Nat Genet2000 251059

    Not in our library10.1038/75490

  83. 83.

    Sarkar PS Appukuttan B Han J Ito Y Ai C Tsai W Chai Y Stout JT Reddy S Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts.Nat Genet2000 251104

    Not in our library10.1038/75500

  84. 84.

    Gilmour DT Lyon GJ Carlton MB Sanes JR Cunningham JM Anderson JR Hogan BL Evans MJ Colledge WH Mice deficient for the secreted glycoprotein SPARC/osteonectin/BM40 develop normally but show severe age-onset cataract formation and disruption of the lens.EMBO J1998 17186070

    Not in our library10.1093/emboj/17.7.1860

  85. 85.

    Hoskins BE Cramer CH Silvius D Zou D Raymond RM Orten DJ Kimberling WJ Smith RJ Weil D Petit C Otto EA Xu PX Hildebrandt F Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.Am J Hum Genet2007 808004

    Not in our library10.1086/513322

  86. 86.

    Heiba IM Elston RC Klein BE Klein R Genetic etiology of nuclear cataract: evidence for a major gene.Am J Med Genet1993 47120814

    Not in our library10.1002/ajmg.1320470816

  87. 87.

    Heiba IM Elston RC Klein BE Klein R Evidence for a major gene for cortical cataract.Invest Ophthalmol Vis Sci1995 3622735

    Not in our library

  88. 88.

    Hammond CJ Snieder H Spector TD Gilbert CE Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins.N Engl J Med2000 342178690

    Not in our library10.1056/nejm200006153422404

  89. 89.

    Hammond CJ Duncan DD Snieder H de Lange M West SK Spector TD Gilbert CE The heritability of age-related cortical cataract: the twin eye study.Invest Ophthalmol Vis Sci2001 426015

    Not in our library

  90. 90.

    Congdon N Broman KW Lai H Munoz B Bowie H Gilber D Wojciechowski R Alston C West SK Nuclear cataract shows significant familial aggregation in an older population after adjustment for possible shared environmental factors.Invest Ophthalmol Vis Sci2004 4521826

    Not in our library10.1167/iovs.03-1163

  91. 91.

    Congdon N Broman KW Lai H Munoz B Bowie H Gilbert D Wojciechowski R West SK Cortical, but not posterior subcapsular, cataract shows significant familial aggregation in an older population after adjustment for possible shared environmental factors.Ophthalmology2005 112737

    Not in our library10.1016/j.ophtha.2004.07.012

  92. 92.

    Moore AT Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract.Br J Ophthalmol2004 8823

    Not in our library10.1136/bjo.88.1.2

  93. 93.

    Liu Y Ke M Yan M Guo S Mothobi ME Chen Q Zheng F Association between gap junction protein-alpha 8 polymorphisms and age-related cataract.Mol Biol Rep2010

    Not in our library10.1007/s11033-010-0230-z

  94. 94.

    Karas N Gobec L Pfeifer V Mlinar B Battelino T Lukac-Bajalo J Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.J Inherit Metab Dis2003 26699704

    Not in our library10.1023/b:boli.0000005660.88944.2f

  95. 95.

    Zuercher J Neidhardt J Magyar I Labs S Moore AT Tanner F Waseem NH Schorderet D Munier FL Bhattacharya SS Berger W Kloeckener-Gruissem B Alterations of the 5′untranslated leader region of SLC16A12 lead to age-related cataract.Invest Ophthalmol Vis Sci2010 51335461

    Not in our library10.1167/iovs.10-5193

  96. 96.

    Shi Y Shi X Jin Y Miao A Bu L He J Jiang H Lu Y Kong X Hu L Mutation screening of HSF4 in 150 age-related cataract patients.Mol Vis2008 1418505

    Not in our library

  97. 97.

    Okano Y Asada M Fujimoto A Ohtake A Murayama K Hsiao KJ Choeh K Yang Y Cao Q Reichardt JK Niihira S Imamura T Yamano T A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, “Osaka,” in Asians.Am J Hum Genet2001 68103642

    Not in our library10.1086/319512

  98. 98.

    Faniello MC Di Sanzo M Quaresima B Nistico A Fregola A Grosso M Cuda G Costanzo F Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region.Clin Biochem2009 429114

    Not in our library10.1016/j.clinbiochem.2009.02.013

  99. 99.

    Bhagyalaxmi SG Srinivas P Barton KA Kumar KR Vidyavathi M Petrash JM Bhanuprakash Reddy G Padma T A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.Biochim Biophys Acta2009 179297481

    Not in our library10.1016/j.bbadis.2009.06.011

  100. 100.

    Winchester CL Ferrier RK Sermoni A Clark BJ Johnson KJ Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.Hum Mol Genet1999 848192

    Not in our library10.1093/hmg/8.3.481

  101. 101.

    Güven M Unal M Sarici A Ozaydin A Batar B Devranoglu K Glutathione-S-transferase M1 and T1 genetic polymorphisms and the risk of cataract development: a study in the Turkish population.Curr Eye Res2007 3244754

    Not in our library10.1080/02713680701338108

  102. 102.

    Zhou J Hu J Guan H The Association between Copy Number Variations in Glutathione S-transferase M1 and T1 and Age-Related Cataract in a Han Chinese Population.Invest Ophthalmol Vis Sci2010 5139248

    Not in our library10.1167/iovs.10-5240

  103. 103.

    Tamer L Yilmaz A Yildirim H Ayaz L Ates NA Karakas S Oz O Yildirim O Atik U N-acetyltransferase 2 phenotype may be associated with susceptibility to age-related cataract.Curr Eye Res2005 308359

    Not in our library10.1080/02713680591003799

  104. 104.

    Unal M Guven M Batar B Ozaydin A Sarici A Devranoglu K Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development.Exp Eye Res2007 8532834

    Not in our library10.1016/j.exer.2007.06.003

  105. 105.

    Zetterberg M Tasa G Prince JA Palmer M Juronen E Veromann S Teesalu P Karlsson JO Blennow K Zetterberg H Methylenetetrahydrofolate reductase genetic polymorphisms in patients with cataract.Am J Ophthalmol2005 1409324

    Not in our library10.1016/j.ajo.2005.05.026

  106. 106.

    Karas-Kuzelicki N Pfeifer V Lukac-Bajalo J Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation.Clin Biochem2008 4186974

    Not in our library10.1016/j.clinbiochem.2008.04.002

  107. 107.

    Lim LS Tai ES Aung T Tay WT Saw SM Seielstad M Wong TY Relation of age-related cataract with obesity and obesity genes in an Asian population.Am J Epidemiol2009 169126774

    Not in our library10.1093/aje/kwp045

  108. 108.

    Utheim ØA Ritland JS Utheim TP Espeseth T Lydersen S Rootwelt H Semb SO Elsås T Apolipoprotein E genotype and risk for development of cataract and age-related macular degeneration.Acta Ophthalmol2008 864013

    Not in our library10.1111/j.1600-0420.2007.01070.x

  109. 109.

    Andersson ME Zetterberg M Tasa G Seibt-Palmer M Juronen E Teesalu P Andersson ME Zetterberg M Tasa G Seibt-Palmer M Juronen E Teesalu P Blennow K Zetterberg H Variability in the kinesin light chain 1 gene may influence risk of age-related cataract.Mol Vis2007 139936

    Not in our library

  110. 110.

    Iyengar SK Klein BE Klein R Jun G Schick JH Millard C Liptak R Russo K Lee KE Elston RC Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study.Proc Natl Acad Sci USA2004 1011448590

    Not in our library10.1073/pnas.0400778101

  111. 111.

    van Veen T van Winsen L Crusius JB Kalkers NF Barkhof F Pena AS Polman CH Uitdehaag BM [Alpha]B-crystallin genotype has impact on the multiple sclerosis phenotype.Neurology2003 6112459

    Not in our library10.1212/01.wnl.0000091861.27246.9e

  112. 112.

    Bergman O Hakansson A Westberg L Nordenstrom K Carmine Belin A Sydow O Olson L Holmberg B Eriksson E Nissbrandt H PITX3 polymorphism is associated with early onset Parkinson's disease.Neurobiol Aging2010 311147

    Not in our library10.1016/j.neurobiolaging.2008.03.008

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