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An ophthalmic genetics clinic
Transactions of the Ophthalmological Societies of the United Kingdom
|January 1, 1975
Summary
A new clinic in Edinburgh established a computerized registry for inherited diseases. The study identified hereditary eye diseases in 40% of surveyed blind school pupils, aiding genetic counseling and risk assessment for families.
Area of Science:
- Ophthalmology
- Human Genetics
- Medical Informatics
Background:
- The establishment of a new clinic in Edinburgh marked the initiation of a computerized Register of Ascertainment and Prevention of Inherited Disease (RAPID).
- Hereditary eye diseases pose a significant challenge in genetic counseling and risk assessment.
- Understanding the prevalence and patterns of inherited eye conditions is crucial for early intervention and management.
Purpose of the Study:
- To present the initial findings from the first year of operation of the Edinburgh clinic and the RAPID registry.
- To ascertain individuals at high risk for hereditary diseases within families.
- To investigate the prevalence of inherited eye diseases among pupils at the Royal Blind School, Edinburgh.
Main Methods:
- Establishing a computerized Register of Ascertainment and Prevention of Inherited Disease (RAPID).
- Ascertaining 45 relatives from fifteen families with hereditary diseases, with >10% risk.
- Surveying 100 pupils at the Royal Blind School, Edinburgh, to determine the genetic basis of their eye conditions.
Main Results:
- 40% of surveyed pupils at the Royal Blind School had definitely inherited severe eye disease.
- 31% had definitely non-genetic disease, allowing for reassuring counseling.
- 29% of cases had uncertain etiology.
- 51 relatives with >10% risk were identified from families with hereditary diseases.
- Retinitis pigmentosa was the most common diagnosis, followed by Marfan's syndrome, oculo-pharyngeal muscular dystrophy, and Leber's congenital amaurosis.
Conclusions:
- Patients with symmetrical 'quiet' congenital eye disease should be suspected of having hereditary conditions, possibly recessive or dominant mutations.
- While patients with recessive diseases have a low risk to their children, consanguineous marriages increase the risk of affected offspring.
- The study highlights the importance of genetic registries and surveys in identifying and managing inherited eye diseases.