Good Hope, Heartlands, and Solihull Eye Clinics

Retinal dystrophy related notes

David Kinshuck

 

 

LORD

  • Late onset retinal dystrophy
  • high insertion of zonules
  • genetic
  • trophy of peripheral retina
  • +/- CNV
  • symmetrical

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.

 

Choroideraemia

Gene treatment available

 

lebers congenital amauroisis

6% have severe hypertension/renal failure