Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000300531 Individual ID 00408415 Associated disease - Phenotype details night vision impairment; night blindness; photophobia, no cataract, refraction od/os : -1.0/-1.25, best corrected visual acuity right/left eye: 0.3/0.3; visual field: central tubular 10deg d (g ii/4a); central tubular 20deg D (G V/4a); no peripheral fields (G V/4a); fundus: optic discs pale, surrounded by peripapillar retinal pigment epithelium atrophy; moderate attenuation of retinal vessels; rather high cystic macular oedema; peripheral retinal atrophy with retinal pigment dots, but no 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 19y (19 years) Age/Diagnosis - Age/Onset 13y 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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