Global Variome shared LOVD

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Phenotype #0000304218 Individual ID 00412204 Associated disease - Phenotype details best corrected Snellen acuity: 6/6, no significant refractive error; fundal appearance: sector RP, although not the typical symmetric form; bilateral although asymmetric area of RP was present in the superonasal area of both eyes; right eye significantly more affected than the left, confirmed using visual field testing; multifocal electroretinography abnormal in the appropriate area corresponding to the retinal signs, reduction in response amplitude and an increase in latency in the affected region in the right eye; full-field electroretinograms and electro-oculograms reduced in the right eye but normal in the left eye Diagnosis/Initial - Inheritance Isolated (sporadic) 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 2022-06-23 21:08:57 +02:00 (CEST) Date last edited N/A

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