ALGORITHMS FOR THE DIFFERENTIAL DIAGNOSTICS OF MONOGENIC DISEASES OF THE CORNEA

Ol’ga Vadimovna Khlebnikova; Elena Leonidovna Dadali

doi:10.17816/rpoj37562

Russian Pediatric Ophthalmology ›› 2013, Vol. 8 ›› Issue (2) : 41 -43. DOI: 10.17816/rpoj37562

Articles

research-article

ALGORITHMS FOR THE DIFFERENTIAL DIAGNOSTICS OF MONOGENIC DISEASES OF THE CORNEA

Author information +

History +

PDF

Abstract

The results of investigations into clinical polymorphism and genetic heterogeneity of hereditary diseases of the cornea are presented with special reference to the algorithms for differential diagnostics of this group of pathologies. The practical significance of molecular genetic research is discussed.

Keywords

hereditary diseases of the cornea / molecular genetic investigations / genetic heterogeneity

Cite this article

Download citation ▾

Ol’ga Vadimovna Khlebnikova, Elena Leonidovna Dadali. ALGORITHMS FOR THE DIFFERENTIAL DIAGNOSTICS OF MONOGENIC DISEASES OF THE CORNEA. Russian Pediatric Ophthalmology, 2013, 8(2): 41-43 DOI:10.17816/rpoj37562

登录浏览全文

4963

注册一个新账户忘记密码

References

Publishing order | Descend order by publishing year | Descend order by cited within

[1]	Кански Д. Клиническая офтальмология: систематизированный подход: Пер. с англ. М.: Логосфера; 2006.

[2]	Крачмер Д., Пэлэй Д. Роговица: Атлас. М.: Логосфера; 2007.

[3]	Майчук Ю.Ф., Ларина Л.А. Наследственные дистрофии роговицы. В кн.: Вопросы офтальмогенетики: Материалы научно-практической конференции. М.; 2005: 92—7.

[4]	Рапуано К.Дж., Ви-Джин Хенг. Роговица. М.: ГЭОТАР-Медиа; 2010.

[5]	Klintworth G.K. Corneal dystrophies. Orphanet. J. Rare Dis. 2009; 4: 7 doi: 10.1186/1750-1172-4-7.

[6]	Weiss J.S., Møller H.U., Lisch PhD. W., Kinoshita S., Aldave A.J., Belin Ml.W. et al. The IC3D classification of the corneal dystrophies. Cornea. 2008; 27 (Suppl. 2): S1—41.

[7]	Пампуха В.Н., Дрожжина Г.И, Лившиц Л.А. Анализ мутаций гена TGFB1 с наследственной дистрофией роговицы. В кн.: Вопросы офтальмогенетики. Материалы научно-практической конференции. М.; 2005: 108—14.

[8]	McKusick V.A. Online Mendelian inheritance in man. Catalogs of Human Genes and Genetic Disorders. Baltimore; London: John Hopkins, Univ. press; 2010. http://www.ncbi.nlm.nih.gov/OMIM.