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An ophthalmic genetics clinic.

C I Phillips, N L Stokoe, H E Hughes

    Transactions of the Ophthalmological Societies of the United Kingdom
    |January 1, 1975
    PubMed
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    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:

    Related Experiment Videos

  • 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.