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Bilateral macular holes and a new onset vitelliform lesion in Best disease.
- Source :
-
Ophthalmic Genetics . Jan/Feb2017, Vol. 38 Issue 1, p79-82. 4p. - Publication Year :
- 2017
-
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. [ABSTRACT FROM PUBLISHER]
- Subjects :
- *RETINAL degeneration
*GENETIC mutation
*OPHTHALMOSCOPY
*RHODOPSIN
*PHOTORECEPTORS
Subjects
Details
- Language :
- English
- ISSN :
- 13816810
- Volume :
- 38
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Ophthalmic Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 121184442
- Full Text :
- https://doi.org/10.3109/13816810.2015.1126614