Phenotype #0000302050

Individual ID 00409936
Associated disease -
Phenotype details nyctalopia in 1st decade of life; visual field loss: before 5th decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: 20/25; macula: sheen, retinal pigment epithelium atrophy around spared fovea; age at visual field testing: 48y - central horizontal diameter V-4e (deg): 153/98; central horizontal diameter I-4e (deg): 44650/11; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 707.1/691.9; pattern: absolute midperipheral and paracentral scotomas.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinal dystrophy
Age/Examination 55y (55 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-14 11:49:20 +02:00 (CEST)
Date last edited N/A

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