Phenotype #0000302053

Individual ID 00409939
Associated disease -
Phenotype details nyctalopia in infancy; visual field loss: 5th decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: 20/40; macula: atrophic retinal pigment epithelium alterations; age at visual field testing: 38y - central horizontal diameter V-4e (deg): 140/150; central horizontal diameter I-4e (deg): 75/77; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 718.9/736.2; pattern: absolute concentric constriction. 39y - central horizontal diameter V-4e (deg): 130/140; central horizontal diameter I-4e (deg): 73/70; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 700.6/716.2; pattern: absolute concentric constriction. ; change (mm2/year):-13.4
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinal dystrophy
Age/Examination 68y (68 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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