Eyesight: Hereditary Diseases
The question
To ask the Secretary of State for Health and Social Care, how many people in the UK have genetic eye conditions impacting the AIPLI gene.
Answered by Ashley Dalton
Mutations in the AIPL1 gene can cause retinal disorders. Genetic causes of retinal disorders are tested for by R32 testing that is available nationally via the National Genomic Test Directory for any patient that meets the eligibility criteria. R32 tests for 280 genes. There have been 11 individuals reported with causative variants in the AIPL1 gene from over 4000 tests. This data represents testing of patients from England only as NHS England does not hold this information for devolved nations.
This number also does not capture the number of individuals identified by cascade testing following the identification of AILP1 causative variants through an R32 test of a family member. Cascade testing is the process of informing and testing family members for a genetic condition discovered within the family.
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