Global Variome shared LOVD

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Phenotype #0000337337 Individual ID 00448130 Associated disease RD Phenotype details fundus maculopathy; FF-ERG scotopic moderately reduced, photopic moderately reduced; fundus foveolar hyper- and hypo-autofluorescent rings and strongly hyperautofluorescent linear lesions of the parafovea; OCT foveal thinning due to outer nuclear layer thinning; irregular ellipsoid zone and retinal pigmented epithelium thickenings, normal peripapillary nerve fiber layer thickness Diagnosis/Initial macular dystrophy with cone dysfunction Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 51y (51 years) Age/Diagnosis 51y Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-16 13:59:32 +01:00 (CET) Date last edited N/A

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