Genetics of childhood cataract
Related Experiment Videos
Peter J Francis1, Anthony T Moore
1Institute of Ophthalmology, UCL, and Moorfields Eye Hospital, London, England.
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.
Related Concept Videos
Genetic Lingo
Photoreceptors and Visual Pathways
Incomplete Dominance
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
X-linked Traits
X-linked Traits