Phenotype #0000301473

Individual ID 00409356
Associated disease BCD
Phenotype details best corrected visual acuity right; left eye: 0.1; 0.1, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, attenuated vesseles, visual field: central scotoma, electroretinogram rod response: undetectable, electroretinogram cone response: undetectab
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset 13y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-06 20:08:31 +02:00 (CEST)
Date last edited N/A

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