The best investigation for diagnosing Best disease is
Correct Answer: Electrooculogram
Description: Best diseaseAutosomal dominant inheritance due to mutation of bestrophin gene on 11q13 chromosomeLipofuscin accumulation throughout the RPELarge yellow yolk like ( vitelliform ) lesion - EGG YOLK APPEARANCEBest investigation for diagnosis of Best disease is made on the basis of abnormal electrooculogram findings - a severe loss of light response of the standing potential occursArden ratio - less than 1.5 & frequently near 1.1Electro-retinography - reduced C waveBEST disease - relatively normal electroretinographic results with abnormal electro oculographic findings(Refer: AH Khurana, Comprehensive Textbook of Ophthalmology,5thedition, pg no: 520-521)
Category:
Anatomy
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