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Autosomal dominant exudative vitreoretinopathy

R R Ober, A C Bird, A M Hamilton

The British Journal of Ophthalmology

|February 1, 1980

Summary

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Autosomal dominant exudative vitreouretinopathy shows varied symptoms, often mild and best detected by fluorescein angiography. Gene penetrance is high, with limited disease progression after age 20.

Area of Science:

Ophthalmology
Genetics
Medical Research

Background:

Autosomal dominant exudative vitreouretinopathy (ADEV) is a rare genetic disorder.
Understanding ADEV's genetic variability and progression is crucial for patient management.

Observation:

Studied twelve affected members across three families with ADEV.
Utilized fluorescein angiography for precise disease detection.

Findings:

Significant variability in phenotypic expression of the ADEV gene observed.
High gene penetrance, nearing 100%, confirmed in affected families.
Fundus changes and visual threat progression are uncommon after the age of 20.

Implications:

Early and accurate diagnosis of ADEV is possible with advanced imaging techniques.

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Genetic counseling for families with ADEV should emphasize high penetrance and limited late-stage progression.

Further research into genotype-phenotype correlations in ADEV is warranted.