Phenotype #0000300831

Individual ID	00408712
Associated disease	-
Phenotype details	vision loss progress, nyctalopia in the 50s; bilateral cataract surgery at 60y; medical history: eczema, hypertension, age-related hearing loss, a hemorrhagic stroke (71y), hepatic steatosis, renal tumor (74y). 74: visual acuity: hand motion both eyes; intraocular pressures: normal; slit lamp examination: anterior chamber intraocular lenses in place in both eyes; fundus: drusen and retinal pigment epithelium changes in the macula with normal-appearing vessels (no hemorrhages or exudates); bone spicule pigmentation with extensive retinal pigment epithelium dropout in the fundus periphery of both eyes; family history: other family members also diagnosed with retinitis pigmentosa (son, sister, brother, mother, maternal grandmother and a maternal great-uncle)
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Sorsby fundus dystrophy
Age/Examination	74y (74 years)
Age/Diagnosis	-
Age/Onset	40y
Phenotype/Onset	blind spot and glare
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-25 21:54:02 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD