Global Variome shared LOVD

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Phenotype #0000224139 Individual ID 00296738 Associated disease - Phenotype details 8-9y-night and side vision disturbances, 30y-diagnosed retinitis oigmentosa, progressive vision loss; 52y-visual acuities were R 20/400, L 20/40 (no significant refractive errors), intraocular pressures normal (16 mm Hg), minimal cataracts, visual fields restricted to small central island each eye; 73y-visual acuities R 20/400, L motions vision, central island visual field detectable right eye only, funduscopic revealed dense pigmentary abnormalities; no family history Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP77 Age/Examination 73y (73 years) Age/Diagnosis 30y Age/Onset - Phenotype/Onset <9y Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-12 10:02:24 +02:00 (CEST) Date last edited N/A

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