Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular |
Therapies under research |
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Further information |
References
- Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis. 2008;14:1157‐1170
- Sun H, Ma Z, Li Y, et al. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. J Med Genet. 2005;42(9):706‐710
- Vanita V, Singh JR, Singh D, Varon R, Sperling K. Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. Mol Vis. 2009;15:476‐481
- Zarina S, Abbasi A, Zaidi ZH. Primary structure of beta s-crystallin from human lens. Biochem J. 1992;287 ( Pt 2)(Pt 2):375‐381