Phenotype #0000346589

Individual ID	00458145
Associated disease	OPA
Phenotype details	see paper; ..., light perception 0.05 OD, CF/60CM OS; no night blindness; anterior segment normal; normal; pale optic nerves, grayish white pigmentation in the midperiphery 3) attenuated retinal vessels that appeared as white lines; hyper autofluorescence ring around fovea, hypofluorescence corresponding pigmentation midperipheral retina; fundus angiography severe retinal vascular nonperfusion peripheral retina, without posterior pole involvement, widespread window defects; ERG severely reduced scotopic and photopic responses; no hearing impairment; encephalitis attack
Diagnosis/Initial	optic atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMDS9B
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
MotorSkills	-
Vision/Abnormality	-
Hearing/Loss	-
Eye/Optic_Disc	-
Protein	-
Brain/Imaging	-
Eye/OCT	-
Vision/Field	-
Vision/Acuity	-
Vision/Colour	-
Habits	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-03 14:44:21 +01:00 (CET)
Date last edited	2024-12-03 16:32:09 +01:00 (CET)