Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000308953 Individual ID 00417467 Associated disease - Phenotype details symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/80; 20:63; refraction right / left eye: -4.50 (-0.50)x100deg/-4 (-0.75) x85deg; colour vision right/left eye: both eyes normal; kinetic visual field:relative central scotoma within the 5 central degree; normal peripheral isopter; fundus: temporal pale optic disc; subtle foveal changes; fundus autofluorescence: mild hyper-autofluorescent ring around the macular region; subtle hypo-autofluorescence within the ring peripheral autofluorescence abnormalities; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinal dystrophy dominated by inner retinal dysfunction and ganglion cell abnormalities Age/Examination 46y (46 years) Age/Diagnosis - Age/Onset >30y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-16 19:13:29 +02:00 (CEST) Date last edited N/A

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