Good Hope, Heartlands, and Solihull Eye Clinics

Adult onset vitelliform macular dystrophy (VMD) /Adult Bests / Best1-related retinopathy
/ Bests vitelliform macular dystrophy

David Kinshuck

 

Description

macular degeneration of gass, diagram

The centre of the retina (the fovea) is affected,
leading to problems with central vision

This condition is generally a type of dry macular degeneration (ARMD), "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a pattern dystrophy generally characterized by bilateral, unifocal, or multifocal yellowish, subretinal foveal deposits, one-third to one disk in diameter. (I term the subretinal deposit as a type of drusenoid PED but this is probably incorrect. They are aslo termed 'vitelliform' lesions.). A newer term for the condition is Adult onset vitelliform macular dystrophy (VMD).

"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a pattern dystrophy generally characterized by bilateral, unifocal, or multifocal yellowish, subretinal foveal deposits, one-third to one disk in diameter.

Adult-onset foveomacular vitelliform dystrophy can be transmitted either as an autosomal dominant trait or potentially as an autosomal recessive trait in association with mutations in the genes for peripherin/RDS (PRPH2), BEST1, IMPG1 or IMPG2, although many AOFVD cases do not carry mutations in these genes. Adult-onset foveomacular vitelliform dystrophy is more frequently diagnosed during the third or the fifth decade; its progression is slow, with long-term visual acuity (VA) preservation, unless atrophic changes or choroidal neovascularization occur." Retina 18

There are other terms such as dry ARMD with a foveal drusenoid retinal pigment epithelial detachment (Ophth13); Bests disease (in children); Adult Bests; Adult onset foveomacular vitelliform dystrophy (AOFVD) ; Bests vitelliform macular dystrophy. The exact name will depend on the gene causing the problem as in the paragraph above.

The damage is confined to the centre of the macula, the fovea. This is a very small central area, and has been described by Gass, and here. Generally the prognosis is good. However, often the retina does become thin in the central affected area, and the sight may get slightly worse with age as the retina thins. About 1/50 patients (with the thicker lesions) develop atrophy every year Ophth13.
A few patients do eventually develop wet ARMD, or other problems. However, this is not part of the condition, and is really coincidental. Reticular pseudodrusen are often present Eye 16   photo

aofmd with early and late changes

enlarge

 

See  

As with all types of ARMD, a healthy lifestyle may slow the condition down. It is likely smoking is extremely harmful, promoting significant progression and also the conversion into wet ARMD.

adult best oct and photo

OCT..like a very large drusen under the fovea: ..vision 6/24, very little change in the last 2 years
...vision 6/18 2 years ago

OCT and photo of AOFMF....adult onset foveomacular dystrophy

blue circle outlines the drusen-like material under the fovea

 

Stages

Adult onset vitelliform macular dystrophy (VMD) stages

Retina18

 

A case

vitelliform macular dystrophy in an adult patient

symptoms for 3 years, 6/18 vision both eyes

 

Another case

Basal laminar drusen and glomerulonephritis, can have viteliform lesions NOTE this. Also had cme.

 

Notes

  • OCTa in AOFVD Retina18   Retina18
  • Adult Bests may be associated with reticular drusen
  • Retina 2010   OCT changes AJO 2011    Unilateral BJO 12     HTRA1
  • Best vitelliform
    • Egg yolk,brilliant autofluourescence
    • oct space under rpe,
  • 4 stages, possibly 5th..cnv
  • Egg yolk breaks down to leave a space
  • choroidal thickness  Retina16
  • some dursenoid PEDs, especially if unilateral, may represent old central serous retinopathy
  • CNV Retina17
  • ERG Retina18
  • fundus phenotype associated with the p.Ala243Val BEST1 mutation  Retina 18

Genes

  • Retina 1
  • Bests  Bestrophin-1gene; gene vmd 2
  • 100 mostly mistsence mutations
  • accumulation of a2e, altered turnover of ros..rod out segment
  • Vmd2: Recessive
  • there may be multifocal 'best'
  • Autosomal recessive bestrophinopathy
    • Recessive
    • Viteliform
    • may be microcornea, narrow angles, microphthalmos

CNV