Global Variome shared LOVD

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Phenotype #0000302124 Individual ID 00410014 Associated disease - Phenotype details age at onset (years): 20s; visual acuity: <0.1/0.1; fundus appearance: pigment deposits, attenuated retinal arterioles, macular degeneration, pale optic discs; color vision: blue color blindness; electroretinography: not examined; optical coherence tomography: thinning photoreceptor layer and retinal pigment epithelium, disrupted choroid; visual field: not examined Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein p.P49L mutant showed a statistically significant increase in transactivating the rhodopsin expression Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-17 20:30:44 +02:00 (CEST) Date last edited N/A

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