Global Variome shared LOVD

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Phenotype #0000302338 Individual ID 00410234 Associated disease - Phenotype details history: night blindness and visual field loss since age 25y; subsequent loss of visual acuity; best corrected visual acuity right, left eye Snellen (logMAR): LP (2.7), LP (2.7); refraction right/left eye: -2.5 -2.5; lens: posterior subcapsular cataract; ophthalmoscopy: pale-white optic disc; severely attenuated vessels; preserved doughnut-shaped area of macula around atrophic fovea; periphery with intraretinal bone spicule pigmentations; Goldmann perimetry: not performed; optical coherence tomography: not performed; fundus autofluorescence: not performed Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 67y (67 years) Age/Diagnosis - Age/Onset 25y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-20 15:46:36 +02:00 (CEST) Date last edited N/A

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