Global Variome shared LOVD

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Phenotype #0000301213 Individual ID 00409098 Associated disease - Phenotype details night blindness (30 y), field constriction (40 y), progressive loss of visual acuity (40 y); intellectual disability: retinitis pigmentosa; best corrected visual acuity right-left eye: light perception-light perception; refractive error: +2.0/+0.5; visual field: absolute scotoma; electroretinogram: no data; anterior segment and fundus: anterior segment normal, exotropia; glaucomatous excavation of the optic disc, narrowed vessels, well-demarcated chorioretinal atrophy in the macula, sparse bone spicules in the mid periphery; round, well-demarcated areas of chorioretinal atrophy and pe clumping in the periphery Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 53y (53 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 2022-04-30 20:17:24 +02:00 (CEST) Date last edited N/A

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