Phenotype #0000054860

Individual ID 00075085
Associated disease CORD
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset <31y
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; Right eye: only island 20–40 deg in superior field. Left eye: central scotoma of 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. Granular RPE changes at the macula.
Protein -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
Date last edited N/A

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