Genetics of childhood cataract : Current Opinion in Ophthalmology (original) (raw)

Cataract surgery and lens implantation

Institute of Ophthalmology, UCL, and Moorfields Eye Hospital, London, England

Correspondence to Professor AT Moore, MA, FRCS, FRCOphth, Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK

Tel: +44 0 207 253 3411; fax: +44 0 207 608 6863; e-mail: [email protected]

Abstract

Purpose of review

Congenital cataracts, although much less common than their age-related counterparts, account for one-tenth of cases of childhood blindness. Approximately half are inherited, either in isolation or as part of a syndrome of ocular or systemic anomalies. This article reviews recent advances made in understanding the molecular genetic basis of isolated, nonsyndromic inherited cataract.

Recent findings

New disease-causing mutations continue to be identified and now encompass genes encoding a wide variety of different lens proteins. More detailed investigations of the functional consequences of each mutation are being reported and suggest that lens opacification results not only from precipitation and amyloid-like accumulation of proteins essential for lens transparency but also from interference with their secondary functions.

Summary

Improved functional characterization of mutations causing childhood cataract will improve understanding of lens development and physiology but will also have implications for the more common age-related cataract. This too has a significant genetic component to its etiology, and genes causing monogenic forms of childhood inherited cataract represent excellent candidate genes for age-related cataract. The identification of the genes conferring increased risk of developing age-related cataract will bring closer the development of a medical treatment to delay the onset of lens opacification and need for surgery.