Phenotype #0000285443

Individual ID 00392165
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.05/0.15, visual field: central scotoma, fundus: lipofuscin deposits, fundus autofluorescence:lipofuscin deposits, optical coherence tomography: center: ellipsoid zone loss; TYR mutation causing oculocutaneous albinism type 1 could be responsible for early-onset
Diagnosis/Initial Stargardt disease
Inheritance Unknown
Diagnosis/Definite RPN-508
Age/Examination 26y (26 years)
Age/Diagnosis 16y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-21 15:43:04 +01:00 (CET)
Date last edited N/A

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