Phenotype #0000054488

Individual ID 00074713
Associated disease STGD1
Phenotype details Stargardt disease; macular dystrophy, reduction in central visual acuity in second decade of life, delay in dark adaptation in 40s, fundus photographs showed extensive atrophic-appearing RPE changes and pigmentation in the posterior pole of the retina, abnormal cone and rod ERG
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset unknown
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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