Global Variome shared LOVD

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Phenotype #0000301962 Individual ID 00409846 Associated disease - Phenotype details best corrected visual acuity 20/150 both eyes; no strabismus or nystagmus; anterior segment slitlamp examination: normal; cycloplegic refraction: +0.25- 2.00x180 in both eyes; retinal examination: optic disc pallor, vascular attenuation, dystrophic retinal changes, outer retinal layer loss, and central hyperautofluorescence; electroretinography: no recordable scotopic function and minimal photopic function Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite rod-cone dystrophy Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset poor vision since childhood Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-12 11:42:14 +02:00 (CEST) Date last edited N/A

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