Phenotype #0000346586

Individual ID	00458142
Associated disease	OPA
Phenotype details	see paper; ..., finger count; night blindness; anterior segment normal; cystoid macular edema, outer retinal atrophy, centrally preserved segment ellipsoid zone; pale optic nerves, distinct spoke wheel pattern in fovea 3) pepper pigmentation on the midperiphery of the retina 4) Few branches of retinal vessels that appeared as white lines; spoke wheel pattern fovea surrounded by a ring of hyper autofluorescence, mottled hypofluorescence around fovea, hypofluorescence corresponding pigmentation peripheral retina; fundus angiography delayed filling; reduced to a small infra-nasal isle; ERG severely reduced scotopic and photopic responses; no hearing impairment; MRI brain normal; seizures; dizziness, fatigue, cold hands/feet; depression; sleeping problems; photophobic
Diagnosis/Initial	optic atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMDS9B
Age/Examination	10y (10 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 16:32:57 +01:00 (CET)