Phenotype #0000255385

Individual ID	00359980
Associated disease	-
Phenotype details	Retinal phenotype: At age 51 fundus revealed foveal hyperpigmentation and circumscribed, perifoveal atrophy within the macula, and in addition, subretinal, yellow-white, punctate deposits were present. At age 59, the fundi showed diffuse retinal and choroidal atrophy posterior to the equator with retinal arteriolar narrowing and rare clumps of intraretinal pigment. Anterior to the atrophic area, the retina was relatively normal in appearance. In the transition region between the atrophic and non-atrophic areas, some indistinct, yellow-white, subretinal dots remained, many of which appeared to have coalesced. The optic discs were pale.;
Diagnosis/Initial	retinitis punctata albescens
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	40y
Phenotype/Onset	Nightblindness
Protein	-
Owner name	Manon Peeters
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-06 16:50:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD