Global Variome shared LOVD

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Phenotype #0000302274 Individual ID 00410170 Associated disease - Phenotype details best corrected visual acuity: 20/30; fundus: macular atrophy: absent, bone spicules: absent; fundus autofluorescence: central hypoautofluorescence: mild, hyperautofluorescent ring: mild, peripheral hypoautofluorescence: moderate; optical coherence tomography: fovea, ellipsoid zone loss: intermittent, outer nuclear layer loss: mild, parafoveal ellipsoid zone loss: severe, outer nuclear layer loss: severe; macular edema: moderate; visual field: central scotoma: absent, visual field constriction: Patchy loss (27y); full field electroretinography: NA, ; pattern electroretinography: not applicable; multifocal electroretinography: not applicable Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinal degeneration Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset >20y Phenotype/Onset mild nyctalopia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-19 14:49:43 +02:00 (CEST) Date last edited N/A

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