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Inherited retinal disorders in Scotland: A 5 year assessment.

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This study analyzed 532 Inherited Retinal Disorder (IRD) patients in Scotland, finding retinitis pigmentosa and Stargardt disease most common. The majority received a molecular diagnosis, crucial for new therapies.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Research

Background:

  • Inherited Retinal Disorders (IRDs) are a significant cause of blindness in working-age adults.
  • Molecular diagnosis is increasingly vital for emerging IRD therapies and genetic testing.
  • Understanding IRD caseloads and diagnostic yields is essential for service improvement.

Purpose of the Study:

  • To assess the caseload of IRD patients in Scottish ophthalmology services over five years (2018-2023).
  • To evaluate diagnostic approaches and genetic testing outcomes for IRD patients.
  • To identify the established inherited causes of IRDs in the Scottish population.

Main Methods:

  • Data collection from 532 patients diagnosed with IRDs across Scotland (Jan 2018 - Jan 2023).
  • Recording of clinical history, examination findings, genetic testing methods, identified variants, and reporting times.
  • Analysis of diagnostic strategies and molecular diagnosis rates.

Main Results:

  • Retinitis pigmentosa (RP) was the most frequent clinical diagnosis (42.4%), followed by Stargardt Disease (9.0%).
  • Usher syndrome was the most common syndromic RP.
  • A molecular diagnosis was achieved in 67.4% of patients, with ABCA4, USH2A, and RDS/PRPH2 as the most common causal genes.
  • Common initial genetic tests included a 176-gene panel and direct ABCA4 testing.

Conclusions:

  • This study offers the first comprehensive assessment of IRDs in Scotland over a five-year period.
  • The findings confirm RP and Stargardt disease as leading IRDs, with a high rate of molecular diagnosis.
  • This research provides valuable insights into Scotland's ophthalmic genetics services, establishing a benchmark for future improvements.