Phenotype #0000300660

Individual ID	00408543
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: at presentation, 6/18, 6/9; retinal examination: normal apart from peripheral choroidal hypopigmentation; electroretinogram: normal photopic responses but on dark adaptation the scotopic b waves were broad and of low amplitude and did not increase on prolonged adaptation, indicating a defect in the rod photoreceptor system; Pattern electroretinograms totally extinguished in right eye, and just recordable in the left; fluorescein angiogram: paramacular defects of the retinal pigment epithelium; geographic atrophy of the retinal pigment epithelium and choroid at the macula led to loss of central vision 17 years after presentation; rheumatological and general medical examination was normal, apart from mild varicose veins
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Sorsby fundus dystrophy
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	33y
Phenotype/Onset	nyctalopia predominantly affecting central vision
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-22 15:32:48 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD