Global Variome shared LOVD

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Phenotype #0000300532 Individual ID 00408416 Associated disease - Phenotype details night vision impairment; night blindness; photophobia, no cataract, refraction od/os : -2.0 cyl+0.75 ax 150deg/-2.5 cyl+1.25 ax 92deg, best corrected visual acuity right/left eye: 0.3/0.3; visual field: central tubular 15deg D (G II/4); Pericentral ring scotoma from 5deg-15deg; peripheral scotomas (G V/4a); fundus: optic discs pale, surrounded by white temporal cuffs; moderate attenuation of retinal vessels; macular foveal cups very shallow; general chorioretinal atrophy, pigment migration with dots and bone spicule coretinitis pigmentosauscles; large choroidal vessels clearly visible under atrophic retinal pigment epithelium; near infrared reflectance imaging : slightly pale fundus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 15y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-21 15:58:46 +02:00 (CEST) Date last edited N/A

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