Global Variome shared LOVD

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Phenotype #0000292056 Individual ID 00398967 Associated disease - Phenotype details night blindness from childhood; visual field disturbances in mid-thirties best-corrected visual acuity right/left eye: 0.5 with +0.75 DS and -1.25 DC ax 180deg in the right eye and 0.02 with +1.0 DS with -2.25 DC ax 10deg in the left eye; intraocular lens in both eyes; diffuse retinal degeneration with numerous bone spicule pigments in the midperiphery; retinal vessels severely attenuated; optic discs were waxy-pale in both eyes; constricted visual fields Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset - Phenotype/Onset night vision problems Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-14 19:21:38 +01:00 (CET) Date last edited N/A

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