Phenotype #0000056386

Individual ID 00076611
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Stargardt disease or cone-rod dystrophy or retinits pigmentosa; pronounced loss of sensitivity, dark choroid, symmetrical cross oval lesion in the macula, irregularities and lumps in the area of the retinal pigment epithelium at the site of lesions, central atrophy,
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset both sides concentric small whitish yellowish subretinal flecks, avoiding direct area macula, bull's eye retinopathy more clearly right than left eye, with altered foveal refle, central destruction retinal pigment epithelium.
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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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