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Variable expressivity of autosomal dominant microcornea with cataract.
J F Salmon1, C E Wallis, A D Murray
1Department of Ophthalmology, University of Cape Town, Groote Schuur Hospital, South Africa.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|April 1, 1988
Summary
Autosomal dominant microcornea and cataract were documented in a large family across seven generations. This genetic condition causes small corneas and cataracts, with related eye abnormalities observed in some relatives.
Area of Science:
- Ophthalmology
- Genetics
- Human Disease
Background:
- Autosomal dominant microcornea with cataract is a rare inherited ocular disorder.
- Previous documentation exists in four families, highlighting its genetic basis.
Purpose of the Study:
- To document and analyze a seven-generation family with autosomal dominant microcornea and cataract.
- To investigate the phenotypic variability and inheritance pattern of this condition.
Main Methods:
- Pedigree analysis was conducted across seven generations.
- Clinical examinations assessed corneal diameter, curvature, and lens opacity in affected individuals.
Main Results:
- Eighteen family members presented with microcornea (corneal diameter <11 mm) and cataract.
- Six additional members exhibited sclerocornea or Peters' anomaly.
- Cataracts progressed to total opacity post-visual maturity; posterior polar lens opacity was common in affected children.
Conclusions:
- The study confirms autosomal dominant inheritance of microcornea with cataract in a large family.
- Variability in gene expression suggests shared embryological origins for microcornea, sclerocornea, and Peters' anomaly.