Phenotype #0000027070

Individual ID	00033641
Associated disease	STGD
Phenotype details	severe ABCA4-associated phenotypes (Retinitis pigmentosa); y25, visual acuity OD: 0.2 (LogMAR chart, BCVA not based on Snellen) , OS: 0.1 (LogMAR chart, BCVA not based on) 25 Macular and peripheral atrophy with retinal vessel attenuation, waxy pallor of the optic nerve, generalized intraretinal pigmentation with midperipheral bone spiculae and inferior pigment clumping. y25: Macular and peripheral atrophy with retinal vessel attenuation, waxy pallor of the optic nerve, generalized intraretinal pigmentation with midperipheral bone spiculae and inferior pigment clumping
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Bauwens
Database submission license	No license selected
Created by	Miriam Bauwens
Date created	2014-10-11 14:35:14 +02:00 (CEST)
Date last edited	2016-07-15 09:52:15 +02:00 (CEST)

Global Variome shared LOVD