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ABSTRACT
Background: Best vitelliform macular dystrophy (BVMD) is an autosomal dominant hereditary retinal disease caused by BEST1 gene mutations. Macular hole is a rare complication of BVMD. We are the first to report a BVMD case with bilateral macular holes and a new onset vitelliform lesion after a vitrectomy surgery.
Materials and methods: A woman with a history of BVMD suffered from a 1-year vision loss in both eyes. Complete ophthalmologic examinations and BEST1 gene screening were performed on the patient.
Results: Ophthalmoscopic examinations revealed bilateral macular holes with atrophic photoreceptors and retinal pigment epithelium (RPE). A disease-causing BEST1 mutation N296S (c.887A>G) was detected. A vitrectomy surgery with internal limiting membrane (ILM) peeling and gas tamponade was performed on the right eye. The macular hole closed and maintained stable for 1 year. A new extramacular vitelliform lesion was observed during the follow-up.
Conclusions: Macular hole is an unusual but severe complication in the end stage of BVMD as the macular thinning is accompanied with vitreous traction. A vitrectomy surgery is effective to close the hole while further study is required to elucidate the pathophysiology of macular hole formation and the new vitelliform lesion in such a case.
Declaration of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.
Funding
This study was supported in part by grant 12ZR1404800 from the Science and Technology Commission of Shanghai Municipality.
Supplemental data
Supplemental data for this article can be accessed on the publisher’s website at http://dx.doi.org/10.3109/13816810.2015.1126614.