Phenotype #0000307121

Individual ID	00415324
Associated disease	-
Phenotype details	symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 6/36, 6/36; final best corrected visual acuity right, left eye (Snellen): 3/60, 3/60; follow up, y: 10; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (47); working diagnosis: arRCD; electrophysiology: severe rod-cone dystrophy, unot doneetectable pattern electroretinogram; color fundus photography: macular atrophy: yes, peripheral pigmentation: yes; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: yes; optical coherence tomography: macular atrophy: yes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	rod-cone dystrophy
Age/Examination	<35y (before 35 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-12 12:23:10 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD