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 LCA

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

Refer

  • Micel Michalidies, Andrew Webster  Moorfields

Examination

  • 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,
    • Use sunglasses 
  • 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