Global Variome shared LOVD

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Phenotype #0000300761 Individual ID 00408643 Associated disease - Phenotype details 38y: funduscopy of the left eye: small drusen within the temporal arcade; optical coherence tomography: subretinal fluid under the left macula, condition failed to resolve spontaneously; fluorescein angiogram: left subretinal neovascular membrane; treatment with three intravitreal injections of ranibizumab followed by another three injections administered on a pro re nata basis over the subsequent months; best corrected visual acuity right, left eye: 6/60 (macular fibrosis), 6/4 Diagnosis/Initial central serous retinopathy Inheritance Familial, autosomal dominant Diagnosis/Definite Sorsby fundus dystrophy Age/Examination 45y (45 years) Age/Diagnosis - Age/Onset 38y Phenotype/Onset slight reduction of central vision left eye Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-25 15:50:34 +02:00 (CEST) Date last edited N/A

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