Phenotype #0000303154

Individual ID 00411064
Associated disease -
Phenotype details VA: 1.3/0.7; RPE atrophy with clumped pigment. Opaque, dendritic appearance of peripheral vessels in both eyes. Macular atrophy (RE > LE) with SDD at the posterior pole in both eyes.Vitreous opacities in both eyes ; Hypo-autofluorescence along the vascular arcades and at the mid-periphery (patchy hypo-autofluorescence at the posterior pole of the right eye, preserved FAF with some hypo-autofluorescence irregular areas; ERG severely reduced
Diagnosis/Initial NR2E3-related retinal dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 60y (60 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-05-31 18:45:49 +02:00 (CEST)
Date last edited N/A

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