Global Variome shared LOVD

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Phenotype #0000308950 Individual ID 00417464 Associated disease - Phenotype details symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/250; 20/400; refraction right / left eye: +1.25 (-1.75)x130deg/+1 (-1) x80deg; colour vision right/left eye: both eyes mild deuteranopia; kinetic visual field:relative central scotoma within 20 central degrees with normal peripheral isopter; fundus: pale optic disc; mild retinal vessel narrowing; foveal changes; fundus autofluorescence: hyper-autofluorescent ring around the macular region; hypo-autofluorescence within the ring with subtle foveal hyper-autofluorescence; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity and thinning 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 72y (72 years) Age/Diagnosis - Age/Onset >40y 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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