Global Variome shared LOVD

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Phenotype #0000302304 Individual ID 00410200 Associated disease - Phenotype details fundoscopy: pigmentation in the peripheral retina, including nummular deposits, most prominent in the temporal and inferior aspects, pallor of the optic disc, and attenuation of the retinal vessels; fundus autofluorescence: a loss of autofluorescence in the peripheral retina; optical coherence tomography: some preservation of fovealbarchitecure both eyes, a few areas with macular oedema in the right eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-20 14:17:32 +02:00 (CEST) Date last edited N/A

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