Phenotype #0000346588

Individual ID	00458144
Associated disease	OPA
Phenotype details	see paper; ..., light perception 0.12 OD, 0.15 OS; night blindness; anterior segment normal; outer retinal atrophy, discontinuous ellipsoid zone; pale optic nerves, extensive depigmentation of the retina 3) attenuated retinal vessels that appeared as white lines; hyper autofluorescence ring around fovea, mottled hypofluorescence in almost entire retina; fundus angiography unfilled retinal vessels, widespread window defects; ERG extinguished scotopic and photopic responses; sensorineural hearing loss; recurrent papule; intellectual disability; binocular alternating exotropia
Diagnosis/Initial	optic atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMDS9B
Age/Examination	09y (9 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 16:32:28 +01:00 (CET)