S.V. AVERYANOVA ², T.N. YURYEVA ^1,3, Zh.V. KHAGDAEVA ²

¹Irkutsk Branch of Federal State Autonomous Institution “Interbranch scientific and technical complex “Eye Microsurgery” named after Acad. S.N. Fedorov” of the Ministry of Health of the Russian Federation, 337 Lermontova Str., Irkutsk, Russian Federation, 664033

²Ophthalmological center “Vizus”, 76a Klyuchevskaya St., Ulan-Ude, Russian Federation, 670046

³Irkutsk State Medical University of the Ministry of Healthcare of the Russian Federation, 1 KrasnogoVosstaniya Str., Irkutsk, Russian Federation, 664003

Averyanova S.V. — ophthalmologist, e-mail: asvetlana-87@mail.ru

Yuryeva T.N. — Professor, Doc. Med. Sc., Deputy Director on scientific work, Professor of the Department of Eye Diseases, e-mail: tnyurieva@mail.ru

Khagdaeva Zh.V. — Director, e-mail: Glas_7@mail.ru

The aspects of prevalence of Usher-Hallgren syndrome in “closed” communities are analyzed. Attention is paid to retinitis pigmentosa, both its types and types of inheritance. The results of the detection of symptoms of impaired dark adaptation and diminished hearingby the method of questioning 27 people, as well as the ways of their inheritance by interviewing, are presented. The comparative assessment of the frequency of both isolated complaints of diminished hearingand dark adaptation, as well as a combination of these complaints, is made. The importance of research in providing medical and social care to patients with this syndrome is underlined.

Key words: Usher-Hallgren syndrome, pigmented retinitis, diminished hearing, inbreeding, dark adaptation, Old Believers.

(For citation: Averyanova S.V., Yuryeva T.N., Khagdaeva Zh.V. Comparative assessment of the incidence of Usher-Hallgren syndrome in “closed” communities of Old Believers of the Republic of Buryatia. Practical Medicine. 2018)

REFERENCES

1. Nasledstvennye i vrozhdennye zabolevaniya setchatki i zritel’nogo nerva / pod red. A.M. Shamshinovoy [Hereditary and congenital diseases of the retina and optic nerve. Edited by A.M. Shamshinova]. Moscow: Meditsina, 2001. 528 p.
2. Stukalov S.E., Pisarenko S.E. Pigmentnaya distrofiya setchatoy obolochki [Pigment dystrophy of the retina]. Voronezh: Izd-vo Voronezh. un-ta, 1980. 102 p.
3. Shershevskaya S.F. Vaskulity i distrofii setchatoy i sosudistoy obolochek glaza [Vasculitis and dystrophy of the retina and choroid]. Kemerovo: Kemer kn. izd-vo, 1983. 103 p.
4. Zhukova S.I., Shchuko A.G., Malyshev V.V. Pigmentnyy retinit [Retinitis pigmentosa]. Novosibirsk: Nauka, 2008. 163 p.
5. Weleber R.S. Retinitis pigmentosa and allied disorders. St. Louis: Mosby, 2001. 460 p.
6. Korovenkov R.I. Nasledstvennye i vrozhdennye zabolevaniya glaz [Hereditary and congenital eye diseases]. Saint Petersburg: KhIMIZDAT, 2006. 639 p.
7. Boughman J.A. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J. Chronic Diseases, 1980, vol. 36, pp. 595–603.
8. Bunker C.H. Prevalence of retinitis pigmentosa in Maine. The New England Journal of Medicine, 1984, 97 (3), pp. 357–365.
9. Lil’in E.T. Genetika dlya vrachey. 2-e izd., pererab. i dop. [Genetics for doctors. 2nd ed., Revised and add.]. Moscow: Meditsina, 1990. 256 p.
10. Ginter E.K. Meditsinskaya genetika: uchebnik [Medical genetics: a textbook]. Moscow: Meditsina, 2003. 448 p.
11. Kozlova S.I., Demikova N.S., Semenova E. et al. Nasledstvennye sindromy i mediko-geneticheskoe konsul’tirovanie. Atlas — spravochnik. Izd. 2-e dopoln. [Inherited syndromes and medical genetic counseling. Atlas — handbook. Ed. 2nd add.]. Moscow: Praktika, 1996. Pp. 345-351.
12. Fogel’ F., Motul’ski A. Formal’naya genetika cheloveka. Genetika cheloveka: v 3-kh t. vol. 1: Per. s angl. [Formal Human Genetics. Human Genetics: In 3 vol. Vol. 1: Transl. from English]. Moscow: Mir, 1989. Pp. 152–167.
13. Fogel’ F., Motul’ski A. Populyatsionnaya genetika. Genetika cheloveka: V 3 t. T. 2: per. s angl. [Population genetics. Human genetics: In 3 vol. Vol. 2: Transl. from English]. Moscow: Mir, 1990. Pp. 340–348.
14. Katsnel’son L.A., Ferafonova R.I., Bunin A.I. Sosudistye zabolevaniya glaz [Vascular diseases of the eye]. Moscow: Meditsina, 1990. 272 p.
15. Berson E.L. Retinitis pigmentosa and allied diseases: some aspects of diagnosis, pathogenesis and management in night vision: current research and future directions. Washington: National Academy Press, 1985. 179 p.