Global Variome shared LOVD

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Phenotype #0000285166 Individual ID 00391865 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.03/0.05; nummular fundus pigmentation, beaten bronze appearance and outer retinal atrophy in the macula. Fundus autofluorescence: hypoautofluorescence in the central macula, extending to the peripapillary retina in the both eyes, spectral-domain optical coherence tomography: loss of physiologic lamination of the outer retina, leading to macular atrophy and degeneration, foveal ellipsoid zone was absent. Small hyperreflective dots were found in the inner and outer retinal layers; visual fields showed a relative scotoma in central field and concentrically constricted peripherals fields; full-field electroretinography showed reduced cone function with preserved rod function. Diagnosis/Initial macular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-19 12:39:43 +01:00 (CET) Date last edited N/A

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