Global Variome shared LOVD

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Phenotype #0000300165 Individual ID 00408035 Associated disease - Phenotype details best corrected visual acuity: 26 yr: right eye: 20/100; left eye: 20/ 80; 48 yr : right eye: lp; left eye: lp, Goldmann perimetry: 26 yr: Generalized constriction (III4e 40deg, V4e 80deg), fundus: 26 yr: macular atrophy and hyperpigmentation, peripheral bone spicules, attenuated vessels48 yr: confluent hypoautofluorescence throughout macula and posterior pole; patchy hypoautofluorescence in periphery, optical coherence tomography: 48 yr: diffuse loss of photoreceptor and retinal pigment epithelium, electroretinography: 26 yr: rod response nd; 30 hz cone flicker 1 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-12 13:04:16 +02:00 (CEST) Date last edited N/A

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