Phenotype #0000302279

Individual ID 00410175
Associated disease -
Phenotype details best corrected visual acuity: 20/125; fundus: macular atrophy: absent, bone spicules: intermittent; fundus autofluorescence: central hypoautofluorescence: mild, hyperautofluorescent ring: mild, peripheral hypoautofluorescence: moderate; optical coherence tomography: fovea, ellipsoid zone loss: moderate, outer nuclear layer loss: moderate, parafoveal ellipsoid zone loss: mild, outer nuclear layer loss: severe; macular edema: absent; visual field: central scotoma: absent, visual field constriction: to 30deg (23y); full field electroretinography: rod: not detectable, cone: not detectable(12y); pattern electroretinography: not applicable; multifocal electroretinography: not applicable
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinal degeneration
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset <15y
Phenotype/Onset mild nyctalopia, mild visual acuity loss
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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