CHRISMED Journal of Health and Research (Jan 2014)

Familial presentation-best vitelliform disease

  • C Charanya,
  • A M Raja,
  • Janti Siddharam,
  • Adnan Matheen

DOI
https://doi.org/10.4103/2348-3334.138908
Journal volume & issue
Vol. 1, no. 3
pp. 203 – 205

Abstract

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A 13-year-old boy presented to our ophthalmology outpatient department with gradual loss of vision in both eyes for past 6 months and the best-corrected visual acuity in right eye was 6/12 and left eye was 6/18. Anterior segment examination was within normal limits. Fundus examination showed right eye partially absorbed egg yolk like lesions in macula and left eye macula shows yellowish scrambled egg like lesions. Electro-oculogram showed reduced Arden′s ratio. Patient was diagnosed to have best disease and as best disease is a bilateral macular dystrophy with autosomal-dominant inheritance it can occur in family members and therefore his parents and siblings were called for ocular examination and were found to have the best disease. So genetic counselling and screening of family members should be carried out or the disease can be missed out.

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