Phenotype #0000300985

Individual ID 00408867
Associated disease -
Phenotype details BCVA:6/120 bilaterally, hypoautofluorescent and surrounded by a ring of hyperautofluorescence. OCT showed the loss of the photoreceptor layer in the region of the macular atrophy
Diagnosis/Initial Cone-rod dystrophy (CRD)
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset 7y
Phenotype/Onset BCVA:6/90 bilaterally. Refraction was +0.50/+1.00×10 RE and +1.50/+1.00×130 LE. Granular atrophic lesions involving the macula and atrophy nasal to the optic disc were present in both eyes.
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-04-29 01:04:01 +02:00 (CEST)
Date last edited N/A

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