Phenotype #0000303095

Individual ID 00411005
Associated disease -
Phenotype details BCVA: RE 20/40 -LE 20/32; Subcapsular-cataract; RPE atrophy midperiphery involving vascular arcades few bone spicules spared macula vascular thinning peripapillary atrophy; ORL atrophy beyond the fovea, small INL cysts
Diagnosis/Initial autosomal recessive retinitis pigmentosa (arRP)
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 59y (59 years)
Age/Diagnosis -
Age/Onset 37y
Phenotype/Onset night blindness and progressive constriction of the visual field
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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