Global Variome shared LOVD

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Phenotype #0000260448 Individual ID 00365110 Associated disease - Phenotype details At the age of 44: Early-onset markedly decreased vision acuity in both eyes along with an increasing difficulty in dark adaptation and a variable loss in color vision. On fundus examination, typical presentations were observed, including some pigment mottling, beaten-bronze macular appearance, and yellow-white flecks around maculae, while few pigmented bone spicules were seen in the retinal periphery. BCVA: 0.06/0.06 Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset <45y Phenotype/Onset decreased visual acuity Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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