Global Variome shared LOVD

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Phenotype #0000315304 Individual ID 00424097 Associated disease - Phenotype details medical and ophthalmological history: glaucoma; revelant family history: Werding-Hoffmann Syndrome; symptoms at time of diagnosis: reduced visual acuity; best corrected visual acuity right, left eye: <20/400, <20/400; fundus examination: narrowed blood vessels, bone spicules in the periphery and perifoveal pigmentation with atrophic macular ring Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 31y (31 years) Age/Diagnosis 11y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-16 21:10:04 +01:00 (CET) Date last edited N/A

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