Global Variome shared LOVD

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Phenotype #0000297631 Individual ID 00405074 Associated disease - Phenotype details refraction: +6.25 diopter sphere both eyes; best-corrected visual acuity right/left eye: 0.2 / 0.1; cornea and the lens transparent; fundus: vitelliruptive lesions with an ‘egg-yolk’ appearance in both eyes; fluorescein angiography: normal in the early detection period, small amount of hyperfluorescence of the angiographic sequence with moderate leakage at the late detection period both eyes; optical coherence tomography: foveal region of both eyes abnormally thick due to neuroretinal detachment from the retinal pigment epithelium, probably triggered by the abnormal accumulation of hyper‑reflective materials beneath the retina of bot Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2) Age/Examination 10y (10 years) Age/Diagnosis 10y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-15 13:52:35 +01:00 (CET) Date last edited N/A

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