Global Variome shared LOVD

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Phenotype #0000302444 Individual ID 00410341 Associated disease - Phenotype details visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and intraretinal pigment deposits in the periphery; the depigmented patches involved the central macula in siblings with severely decreased acuity; full-field electroretinograms: reduced, reflecting widespread loss of photoreceptor function; near-normal levels of serum vitamin A; 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 2022-05-24 12:53:03 +02:00 (CEST) Date last edited N/A

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