Global Variome shared LOVD

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Phenotype #0000291959 Individual ID 00398861 Associated disease - Phenotype details optical coherence tomography: cystoid oedema, which was also evident on ophthalmoscopy, and epiretinal membrane; no rod function and detectable cone function in the central field only; 34y best-corrected visual acuity remained 20/30, but visual fields had decreased to only a central island Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-13 19:23:15 +01:00 (CET) Date last edited N/A

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