Page 1 of 1: BEST DISEASE

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HOW IS IT DIAGNOSED

WHAT IS BEST DISEASE

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Best disease, also termed vitelliform macular dystrophy, is an autosomal dominant disorder, which classically presents in childhood with the striking appearance of a yellow or orange yolklike lesion in the macula.
A hallmark of the disease is a markedly abnormal electro-oculogram (EOG) in all stages of progression and in phenotypically normal carriers.
Fluorescein angiogram reveals blockage of choroidal fluorescence by the vitelliform lesion.
Fundus photography is useful for documentation and follow-up of fundus lesions.
Electro-oculogram

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THANKS FOR ANS

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That's some Disease !

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Inheritance: AD with variable penetrance & expressivity

C/F:

Stage 1-previtelliform: asymptomatic, c/b abN EOG (decreased light-peak-dark-trough ratio), no detectable fundus lesion..

Stage 2- vitelliform: ill-defined yellow spots develop at the level of the RPE d/t accumulation of lipofuscin granules. At macula, the yellow material is secreted into the potential space b/w the sensory retina & the RPE to form classic 'egg-yolk' or 'sunny-side-up' lesion which measures b/w 0.5-3 disc diameters in size.. Visual acuity N or slightly decreased..

Stage 3- pseudohypopyon: A part of the lesion may become absorbed giving rise to a 'pseudohypopyon' in which the upper part shoes up as an area of hyperfluorescence d/t atrophic changes in the RPE, while the lower part of the lesion blocks background choroidal fluorescence.

Stage 4- vitelliruptive: the 'egg-yolk' begins to break up & assumes a 'scrambled egg' appearance. Patient usually develops visual impairment at this point.

Stage 5- end stage: It is asso with moderate to severe impairment of vision. 3 macular lesions may occur: a) Hypertrophic macular scar b) Vascularized fibrous scar with choroidal neovascularization c) Atrophic macular lesion, in shich macula develops a orange-red colour d/t increased visibility of the choroid through the atrophic RPE.

EOG is severely subnormal in all stages of this disease in affected patients as well as in carriers with normal fundi..

Ref: Kanski

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