Global Variome shared LOVD

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

Phenotype #0000298715 Individual ID 00406217 Associated disease - Phenotype details chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,7 / 0,4, refractive errors (diopters) right/left eye: +1.5 / -0.5; fundus: atrophy along the arcade (slight), peripheral atrophy, foveal sparing, fundus autofluorescence: ring of high density, petaloid changes of high density at the macula (left eye),spectral domain optical coherence tomography: outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, intraretinal minor cystic changes (right eye) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset 37y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-25 16:05:43 +01:00 (CET) Date last edited N/A

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