Global Variome shared LOVD

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Phenotype #0000116912 Individual ID 00144134 Associated disease - Phenotype details visual acuity: R 0.4 L CF; refraction R(D) +0.5 L(D) 0; lens status: bilateral cateract; Goldmann Perimetry: OD: concentric constriction with remaining central island , OS: concentric constriction with remaining peripheral island. P0; fundoscopy: normal optic disc, attenuated retinal vasculature, RPE changes in periphery and posterior pole, extensive bone spicules throughout periphery; ERG: extinguished Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 14y Phenotype/Onset - Protein - Owner name Rob W.J. Collin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-28 22:45:32 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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