Good Hope, Heartlands, and Solihull Eye Clinics

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

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), and may be known as adult onset Bests disease. 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; Bests vitelliform macular dystrophy (AOFVD) , but the term Best1-related retinopathy groups all these different presentations together.

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, 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

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

 

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

  • 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

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