Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W)

Purpose: To describe later retinal degeneration following childhood cataract surgery without intraocular lens implantation in a consanguineous family with developmental cataract from homozygous p.R56W mutation in CRYAB, a gene that encodes a heat-shock protein (αB-crystallin) in both retina and the...

Full description

Saved in:
Bibliographic Details
Published in:Ophthalmic genetics 2010-03, Vol.31 (1), p.30-36
Main Authors: Khan, Arif O., Safieh, Leen Abu, Alkuraya, Fowzan S.
Format: Article
Language:English
Subjects:
Adolescent
Adult
alpha-Crystallin B Chain - genetics
Aphakia, Postcataract - etiology
Cataract - genetics
Cataract Extraction
Child
Consanguinity
CRYAB
Electroretinography
Female
Genes, Recessive
Humans
Infant
Juvenile cataract
Male
Middle Aged
Mutation, Missense
Pedigree
Polymorphism, Single Nucleotide
Prospective Studies
Retinal degeneration
Retinal Degeneration - genetics
Visual Acuity
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Purpose: To describe later retinal degeneration following childhood cataract surgery without intraocular lens implantation in a consanguineous family with developmental cataract from homozygous p.R56W mutation in CRYAB, a gene that encodes a heat-shock protein (αB-crystallin) in both retina and the lens. Methods: Prospective ophthalmologic examination and venous blood sampling for diagnostic CRYAB sequencing in the 12 available family members (7 siblings and their 2 parents, the siblings' maternal aunt and her son, and the siblings' maternal grandmother). Results: Those who underwent childhood cataract surgery (2 siblings, their mother, their maternal aunt) or who had visually-insignificant lens opacities (2 siblings, their maternal grandmother) were homozygous for p.R56W CRYAB mutation. Among these 7 affected family members, clinically-obvious rod-cone degeneration was present only in the only 2 adults who were aphakic since childhood from cataract surgery. Conclusions: Recessive p.R56W CRYAB mutation shows variable expressivity for lens opacity. Decades of aphakia increases retinal light exposure and may be an environmental risk factor for significant retinal degeneration in patients homozygous for the mutation.
ISSN:1381-6810
1744-5094
DOI:10.3109/13816810903452047