Phenotype #0000302273

Individual ID 00410169
Associated disease -
Phenotype details best corrected visual acuity: 20/16; fundus: macular atrophy: absent, bone spicules: absent; fundus autofluorescence: central hypoautofluorescence: moderate, hyperautofluorescent ring: mild, peripheral hypoautofluorescence: severe; optical coherence tomography: fovea, ellipsoid zone loss: absent, outer nuclear layer loss: intermittent, parafoveal ellipsoid zone loss: severe, outer nuclear layer loss: severe; macular edema: absent; visual field: central scotoma: absent, visual field constriction: to 30deg (30y); full field electroretinography: rod: moderately reduced, cone: mildly reduced (30y); pattern electroretinography: moderately reduced; multifocal electroretinography: paracentrally: mildly reduced; centrally: spared
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinal degeneration
Age/Examination 36y (36 years)
Age/Diagnosis -
Age/Onset >30y
Phenotype/Onset mild nyctalopia
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-19 14:49:43 +02:00 (CEST)
Date last edited N/A

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