Global Variome shared LOVD

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Phenotype #0000259546 Individual ID 00364208 Associated disease - Phenotype details An 8-year-old girl presented with a 4-month history of progressively worsening central vision. In retrospect, the parents noticed vision problems as early as 6 years of age. On examination, her color vision was markedly abnormal with 0/15 and 2/15 Ishihara color plates correctly read with the right and left eyes, respectively. Her visual acuity was 20/200 for both eyes and Goldmann perimetry demonstrated bilateral paracentral/central scotomas. Fundus examination demonstrated minimal macular stippling with no evidence of pisciform flecks in the periphery. The clinical diagnosis of Stargardt macular dystrophy was made and the patient underwent ERG testing, which demonstrated a moderate reduction of the dark-adapted responses of rods and severely depressed and prolonged photopic responses including the 30 Hz flicker. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset vision problems 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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