Phenotype #0000346585

Individual ID	00458141
Associated disease	OPA
Phenotype details	see paper; ..., light perception oculus uterque (both eyes); night blindness; cataract; cystoid macular edema, thinning ganglion cell layer, discontinuous ellipsoid zone; pale optic nerves, attenuation of the retinal vessels 3) pepper pigmentation variation in the midperiphery retina; hypofluorescence corresponding pigmentation midperipheral retina, hyper autofluorescence ring around fovea; ERG extinguished scotopic and photopic responses; sensorineural hearing loss; MRI brain cerebellar atrophy; ataxia; insomnia; movement disorder
Diagnosis/Initial	optic atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMDS9B
Age/Examination	11y (11 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	N/A