Global Variome shared LOVD

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Phenotype #0000358856 Individual ID 00474056 Associated disease RD Phenotype details see paper; ..., Goldman – remaining central island; bone spicule pigment deposits in the mid-peripher, waxy pallor of optic disc. OCT (BE): Photoreceptor island in the fovea. RE –epiretinal membrane; ERG: Extinguished rod and residual cone response (55y)  EOG: reduced Arden ratio (110%); RE Amblyopia LE Diabetic macular edema, treated with anti-VEGF; Diabetes Type II (40y); normal BMI; hypertension (55y); hyperlipidemia (55y); hearing loss (since 50y) no audiogram available Diagnosis/Initial atypical retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 55y (55 years) Age/Diagnosis - Age/Onset 50y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-09 21:39:27 +01:00 (CET) Date last edited N/A

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