Phenotype #0000056111

Individual ID 00076336
Associated disease STGD1
Phenotype details Stargardt disease; At 15 years of age: OD 20/150, OS 20/150, peripapillary atrophy, Anterior segment exam was unremarkable with applanation tonometry measuring 16 mmHg OU. Posterior segment exam and autofluorescence was significant for bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions OU
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset difficulty reading materials held greater than 6 inches from her eyes, decreased visual acuity
Protein -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
Date last edited N/A

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