Phenotype #0000305772

Individual ID 00413807
Associated disease -
Phenotype details VA(RE-LE): 6/36–6/36; Bilateral macular RPE changes with areas of atrophy and pigmentation;attenuated retinal vessels with peripheral areas of atrophy; Bilateral decreased AF centrally with a surrounding ring of relative increased AF; Cone responses more markedly reduced than rod ; Absent PERG; Bilateral mild protan, deutan and tritan defects
Diagnosis/Initial cone-rod dystrophy (CORD7)
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 52y (52 years)
Age/Diagnosis -
Age/Onset 30y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-07-22 03:34:11 +02:00 (CEST)
Date last edited N/A

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