Phenotype #0000312638

Individual ID 00421399
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/20, 20/20; fundus appearance: pigmentary clumping; near infrared reflectance: hyper-reflectance in a wing-shaped pattern; fundus autofluorescence: patches of increased autofluorescence; optical coherence tomography: hyper-reflective subretinal deposit; electroretinogram, pattern electroretinogram normal
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite macular pattern dystrophy
Age/Examination 27y (27 years)
Age/Diagnosis -
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 2022-11-04 15:42:01 +01:00 (CET)
Date last edited N/A

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