Familial presentation-best vitelliform disease

CHRISMED Journal of Health and Research

关键词: Best disease;    electooculogram;    macular dystrophy;   

DOI  :  10.4103/2348-3334.138908

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown