Phenotype #0000305338

Individual ID	00413360
Associated disease	-
Phenotype details	whole family general description: initial symptom of reduced visual acuity associated with loss of colour vision apparent 20-40y; changes at the level of the retinal pigment epithelium at the macula identified prior to visual loss, central atrophy developed with time; visual field: central loss, preservation of peripheral visual fields, even in late disease; significant generalized loss of cone function - reduction in photopic electroretinograms, and central retinal involvement (reduction in pattern electroretinograms); flicker responses: reduced, normal implicit time; rod and the maximal dark adapted single white flash responses - low amplitude, but not markedly subnormal; in most members of the family the electro-oculogram (EOG) light induced rise - normal, but in some the rise was high (+375%)
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	cone dystrophy
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	reduced visual acuity associated with loss of colour vision
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-15 15:21:58 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD