Global Variome shared LOVD

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Phenotype #0000207991 Individual ID 00271385 Associated disease - Phenotype details retinitis pigmentosa, respiratory failure from early age, required physiotherapy regularly through school years;20s-night-vision problems, ERG confirmed severe rod and /cone dysfunction, progressive loss peripheral vision and later central vision; visual acuities right 0.25/left 0.5, visual fields constricted to 10, fundus examination revealed widespread retinal degeneration with only sparse bone-spicule pigmentation Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP82 Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset - 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 2019-12-19 09:19:56 +01:00 (CET) Date last edited 2019-12-19 09:47:05 +01:00 (CET)

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