Good Hope, Heartlands, and Solihull Eye Clinics

Retinal dystrophy related notes

David Kinshuck






  • 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.



Gene treatment available


lebers congenital amauroisis LCA

  • 6% have severe hypertension/renal failure
  • Nystagmus, flat erg
  • 17 genes
  • Rpe65.  10%.   Rpe65 supplies high energy vitamin a, 
  • commonest iva26


  • Rupal Morjaria bmec


  • Stationary, progressive,inherited,....which
  • ? Isolated, syndromic, adults, child onset, rod, cone
  • Progressive..lca, rp
  • Macular dystrophy
    • retinocshisis, best, stargardts
  • Best
    • Ad, wide expression, different stages, varied progression, Stage i-iv, eExamine family members
    • Autofluouresense 
    • Srf is not cnv, intraretinal fluid or cyst may be
    • Cnv..respond to 1 injection
    • Best1 = Rpe disease
  • Stargardts
    • Ar, flecks, macula atrophy, autofluouresense, erg normal, reduced, cone only or with rod
    • flecks later..autofluouresense
    • Abca4. Lots of genotypes, genes BJO 19
    • Use sunglasses 
    • some vision is maintained Retina 18  genes BJO 19
  • Why test genes
    • Not teatable, and variable outocome
    • Can give some prognosis, syndromic,
    • Families keen to know 
    • Whole genome scan
  • Case 43y
    • Poor vison years, 6/60, hyperopic, older brother and grandfather,
    • Erg negative wave, split retina
    • X lilnked retinoshcisis
  • Geneticist 
    • Diagnosis, Information , Research, Communication, Counselling with family, employer, decision making, Emotional, Practical support, Special consent form