Phenotype #0000300673

Individual ID 00408555
Associated disease -
Phenotype details 55y: best corrected visual acuity right, left eye: 20/70, 20/400; ophthalmoscopy: mild attenuation of the retinal vasculature, with bilateral loss of retinal pigment epithelium and choriocapillaris extending from the macula into the midperiphery combined with irregular pigment clumping that exceeded the atrophic areas; disciform scarring in the macula both eyes; small, drusenlike deposits could be seen throughout the posterior pole
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite Sorsby fundus dystrophy
Age/Examination -
Age/Diagnosis -
Age/Onset 55y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-22 21:13:09 +02:00 (CEST)
Date last edited N/A

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