VITELLIFROM MACULAR DYSTROPHY/BEST’S DISEASE

It is an autosomal dominanat disorder, clinically presents in childhood, with appearance of a yellow or orange yolk like lesion in macula. It was named After a German ophthalmologist Dr. Franz Best.

It can be of 2 types:  Early onset/Childhood onset and Adult onset. Usually affects both eyes, can be occasionally unilateral

Mutation on chromosome number 11, on gene RDS and VMD2 causes this disease.
Lesions are restricted only to the eye and no systemic associations exist.
Dysfunction in bestrophin results in abnormal fluid and ion transport by the retinal pigment epithelium Lipofuscin accumulates within the RPE cells and in sub-RPE space. RPE develops degenerative changes and secondary loss of photo-receptor cells results.

Visual acuity is good in pre-vitelliform stage.

RPE atrophy in a geographical pattern with possible development of choroidal neovascularization membrane is indicative of further deterioration.

MANAGEMENT:

• Increased intake of vegetables and fruits
• Reduce or eliminate caffeine and carbonated drinks from diet
• Avoid aspartame, mono-sodium glutamate, manmade fats and fat blockers which impair absorption of carotinoids.
• Eliminate deep fried foods, reduce satured fat and cholesterol
• Vitamin supplementation.

TREATMENT:

Ginko biloba: it contains flavinoids which may increase blood supply to the macula and aid in age related macular dystrophy. Improves blood circulation to the macula and the optic nerve.

Napthalinum: Marked affinity for the eye. It produces detachment of the retina, papillo-retinal infiltration, deposits in patches upon the retina, amblyopia and consecutive amaurosis, sparkling synchisis, soft cataract. Exudation in the retina, choroid and ciliary body. Cataract.