From the Guidelines
Best (Bestrophin) vitelliform macular dystrophy is typically bilateral, affecting both eyes, although the severity and progression may be asymmetric between the two eyes. This condition is caused by mutations in the BEST1 gene, which encodes the bestrophin-1 protein found in the retinal pigment epithelium 1. The classic presentation involves accumulation of lipofuscin-like material in the macula, creating the characteristic "egg yolk" appearance. Key characteristics of Best vitelliform macular dystrophy include:
- Positive family history
- Symmetrical bilateral disease
- Vitelliform lesion on fundoscopy centered in the fovea
- Serous detachment on OCT
- Filled with hyperreflective material
- Hyperautofluorescence on FAF
- No focal leakage on FA
- No choroidal hyperpermeability on ICGA
- Absent or markedly decreased light rise on electro-oculography While both eyes are usually affected at the genetic and cellular level, the clinical manifestations and visual impairment may develop at different rates in each eye, sometimes giving the impression of monocular disease in early stages 1. The condition typically presents in childhood but can manifest from early childhood to adulthood, with variable expressivity even within the same family. Visual acuity may remain relatively preserved until later stages of the disease when atrophic changes occur in the macula.
Some key points to consider in the diagnosis and management of Best vitelliform macular dystrophy include:
- No treatment is available for the condition itself, although intravitreal anti-VEGF injections may be used in cases of neovascularization 1
- Regular monitoring is essential to track disease progression and identify potential complications
- Genetic counseling may be beneficial for affected families to understand the risk of transmission and the variable expressivity of the condition
- A comprehensive diagnostic workup, including fundoscopy, OCT, FAF, FA, and ICGA, is necessary to confirm the diagnosis and rule out other potential causes of vitelliform lesions.
From the Research
Best (Bestrophin) Vitelliform Macular Dystrophy
- There are no research papers provided to assist in answering this question regarding whether Best (Bestrophin) vitelliform macular dystrophy is normally monocular or binocular 2, 3, 4, 5, 6.
- The studies provided discuss age-related macular degeneration, geographic atrophy, and the effects of antioxidant vitamin and mineral supplements on the progression of age-related macular degeneration, but do not mention Best (Bestrophin) vitelliform macular dystrophy.