Global Variome shared LOVD

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Phenotype #0000301335 Individual ID 00409217 Associated disease - Phenotype details night blindness: 5y, visual field constriction: 16y, decreased visual acuity: 20y; ophthalmic examination: best corrected visual acuity right, left eye: counting fingers/10, counting fingers/20, slit lamp: mild cataract, visual field: not detectable, fundus: paravascular bone spicule pigmentation, retinal pigment epithelium atrophy, pale disc, arteriolar constriction, optical coherence tomography: extensive ellipsoid band loss, retinal pigment epithelium thinning, fundus autofluorescence: extensive hypofluorescence in the posterior pole, electroretinogram: extinguished Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination - 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 2022-05-05 14:21:41 +02:00 (CEST) Date last edited N/A

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