Retinal dystrophy related notes
- Late onset retinal dystrophy
- high insertion of zonules
- trophy of peripheral retina
- +/- CNV
Corkscrew retinal vessels,
familial retinal arteriole tortuosity - FRAT
Case 1 Age 39
Corkscrew second,third order arterioles, bilateral, familial, had previously had retinal haemorrhages ..familial retinal arteriole tortuosity FRAT, rarely progressive, get haemorrhages after minor exertion.
May be part of hanac syndrome, col4a1, with other symptoms, linked to early cardiac death, arrhythmia and cerebral haemorrhage.
Gene treatment available
lebers congenital amauroisis
6% have severe hypertension/renal failure