Phenotype #0000300748

Individual ID 00408630
Associated disease -
Phenotype details 66y: central visual deterioration; best-corrected visual acuity right, left eye: 3/60, counting fingers; right macular haemorrhages, left eccentric disciform scar and diffuse scarring of the posterior pole; a 'hot-spot' on indocyanine angiography at presentation was later confirmed as polypoidal with a thumb-shaped lesion evident on spectral domain optical coherence tomography
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite Sorsby fundus dystrophy
Age/Examination 79y (79 years)
Age/Diagnosis -
Age/Onset 66y
Phenotype/Onset central visual deterioration
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-25 15:00:22 +02:00 (CEST)
Date last edited N/A

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