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Autosomal dominant congenital cataract. Interocular phenotypic variability
M H Scott1, J F Hejtmancik, L A Wozencraft
1National Eye Institute, NIH, Bethesda, MD 20892.
Ophthalmology
|May 1, 1994
Summary
This study identifies a large family with autosomal dominant congenital cataracts showing unusual unilateral or bilateral expression. This challenges typical symmetry in hereditary cataracts and prompts further genetic investigation.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Autosomal dominant congenital cataracts usually present with symmetrical lens opacities within families.
- Interocular variation in cataract expression is typically minimal in affected individuals.
Purpose of the Study:
- To describe a seven-generation family with autosomal dominant congenital cataracts exhibiting variable unilateral or bilateral expression.
- To document the phenotypic heterogeneity of congenital cataracts within a large pedigree.
Main Methods:
- Collected ophthalmic and medical histories from 53 family members.
- Performed comprehensive ophthalmologic examinations and genetic sample collection.
- Analyzed clinical data and incorporated historical records for 138 individuals.
Main Results:
- Identified 48 affected individuals with autosomal dominant congenital cataracts of the pulverulent type.
- Observed that 28 examined patients presented with unilateral (19) or bilateral (9) cataracts.
- Documented a range of cataract severities, from subtle zonular to dense nuclear opacities requiring surgery.
Conclusions:
- This is the first described family with autosomal dominant cataracts showing apparently random unilateral or bilateral expression.
- The findings suggest a novel pattern of genetic expression for hereditary cataracts.
- Ongoing research aims to identify the specific gene locus responsible for this unique phenotype.