Blog - Adult Onset Vitelliform Dystrophy

A 41 year old male patient came with history of diminished vision in both eyes since 5 months. His best corrected visual acuity was 6/6 in both eyes with glasses. Fundus evaluation showed subretinal fluid at macula with subretinal fibrin deposition inferior to fovea.

Optomap of both eyes
Autofluorescence image : autofluorescent subretinal deposit inferior to fovea

OCT : shows a hyperreflective material between neurosensory retina and RPE

OCT OF RIGHT EYE
OCT OF LEFT EYE

ADULT ONSET VITELLIFORM MACULAR DYSTROPHY(AVMD)

Clinical Manifestations

Classically, AVMD changes include 

  • Sporadic, although some familial clustering has been reported,
  • Onset typically between 30-50 years of age,
  • Autofluorescent, subfoveal yellow vitelliform-like lesion 500-700µm in size,
  • No visual symptoms, or-mild-moderate visual acuity decrease,
  • Hyperreflective material between the NSR and the RPE.

Complications of AVMD include:

Choroidal neovascularization,

RPE detachment

TREATMENT:

At present, no definitive therapies or treatments exist for patients with bestrophinopathies.

  • Gene therapies
  • Stem cell based retinal pigment epithelium transplantation

Both the therapies are under intense research

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