Phenotype #0000325351

Individual ID 00435118
Associated disease STGD1
Phenotype details visual acuity (logMAR) OS0 OD0; loss photoreceptors perifoveal region; fundus autofluorescence area of RPE atrophy and hypo-autofluorescence; ECG severe alterations rod responses and moderate–severe alterations cones
Diagnosis/Initial Stargardt disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite STGD1
Age/Examination 48y (48 years)
Age/Diagnosis 41y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name M. Rodríguez-Hidalgo
Database submission license No license selected
Created by M. Rodríguez-Hidalgo
Date created 2023-05-15 13:14:24 +02:00 (CEST)
Date last edited 2023-10-05 17:29:25 +02:00 (CEST)

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