Global Variome shared LOVD

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Phenotype #0000058019 Individual ID 00078244 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details ABCA4-related retinal disease; y55: visual acuity OD 0logMAR, OS 0logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations. Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset unknown Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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