Anterior polar cataract: clinical spectrum and genetic linkage in a single family.
Anterior polar cataract can occur as a sporadic finding, in association with other ocular abnormalities or as an inherited, autosomal dominant disorder. We have demonstrated linkage in a family with autosomal dominant anterior polar cataract to the short arm of chromosome 17, locating the gene to the region 17p12-13. All affected members of this large family had an opacity at the anterior pole of the lens that varied only in size and the effect on visual acuity. Anterior polar cataract is thought to have a minimal effect on visual acuity although in the affected members of this family there was a high incidence of unilateral amblyopia.
Department of Molecular Genetics Institute of Ophthalmology London, UK.
A
A
Ionides
V
V
Berry
D
D
Mackay
A
A
Shiels
S
S
Bhattacharya
A
A
Moore
D002386:Cataract / Q000235:genetics* / Q000503:physiopathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D014792:Visual Acuity