Global Variome shared LOVD

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Phenotype #0000054858 Individual ID 00075083 Associated disease CORD Inheritance Isolated (sporadic) Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset <54y Phenotype/Onset loss of central vision Phenotype details cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 15–20 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Large central chorioretinal atrophy with small island. Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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