Global Variome shared LOVD

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Phenotype #0000296504 Individual ID 00403823 Associated disease - Phenotype details visual acuity: 0.8-0.8 (Pigassou), funduscopy: right eye: pseudohypopion macular lesion, fluorescein angiography: right eye: macular hypo-fluorescent lesions due to deposits of vitelliform material and hyper- fluorescent lesions due to atrophic lesions of the retinal pigment epithelium; left eye: hyper-fluorescent lesion due to its retractile-atrophic stage. hyper-fluorescent lesions in the periphery of both eyes, electroretinograms: normal, electrooculography Arden ratios: reduced right eye: 1.00, left eye: 1.12 Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2) Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-24 11:21:18 +01:00 (CET) Date last edited N/A

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