Global Variome shared LOVD

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Phenotype #0000300723 Individual ID 00408605 Associated disease - Phenotype details bilateral central vision loss 56y; atrophic maculopathy; retinal pigment epithelium detachment and intraretinal cystic spaces consistent with the choroidal neovascularization observed clinically; fundus autofluorescence: areas of irregular hyper and hypofluorescence both eyes; mutant retained its MMP inhibitory activity; Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite Sorsby fundus dystrophy Age/Examination 59y (59 years) Age/Diagnosis - Age/Onset 45y Phenotype/Onset - Protein dimerizes in culture cells and retains its MMP inhibitory activity Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-25 12:49:38 +02:00 (CEST) Date last edited N/A

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