电邮这篇文章 Best disease: clinical observation of a family case
- 作者: Katargina L.A1, Denisova E.V.1, Ryabtsev D.I1
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隶属关系:
- The Helmholtz Moscow Research Institute of Eye Diseases
- 期: 卷 10, 编号 2 (2015)
- 页面: 15-19
- 栏目: Articles
- URL: https://journals.rcsi.science/1993-1859/article/view/37627
- DOI: https://doi.org/10.17816/rpoj37627
- ID: 37627
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The article presents a family case of Best vitelliform macular dystrophy (Best’s disease) - autosomal dominant macular dystrophy with typical clinical presentation and staging of the disease flow. A daughter and a mother had diagnosed Best’s disease with different localizations (central and eccentric) and stages (psevdogipopion and pseudocyst) of the disease in the right eye and the same (atrophic) - in the left eye. Apart from that, the daughter had the optic disc drusen. We proved descriptiveness of optical coherence tomography and fundus autofluorescence imaging for confirmation of Best’s disease diagnosis, determination of the stage of the disease and identification of changes that cannot be detected with ophthalmoscopy, in retina, pigment epithelium and Bruch's membrane.
作者简介
L. Katargina
The Helmholtz Moscow Research Institute of Eye Diseases105062, Moscow, Russia
Ekaterina Denisova
The Helmholtz Moscow Research Institute of Eye Diseases
Email: deale_2006@inbox.ru
105062, Moscow, Russia
D. Ryabtsev
The Helmholtz Moscow Research Institute of Eye Diseases105062, Moscow, Russia
参考
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- Crowley C., Paterson R., Lamey T., McLaren T., De Roach J., Chelva E., Khan J. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma Docum. Ophthal. 2014; 129 (1): 57-63.
- Davidson A.E., Millar I.D., Urquhart J.E., Burgess-Mullan R., Shweikh Y., Parry N. et al. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am. J. Hum. Genet. 2009; 85 (5): 581-92.
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