Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia

Retinal pigment abiotrophy is a hereditary disease with a primary diffuse lesion of photoreceptors and the retinal pigment epithelium, in which characteristic functional changes and a typical picture of the fundus with pigment bone bodies are noted. Retinal pigment abiotrophy is the most common disease of all dystrophies of the retina.

Aim. To do a clinical genealogical analysis of the type of inheritance of pigmentary retinitis in residents of Tarbagatai region of the Republic of Buryatia.

Material and methods. At the first stage of the study, a round between the residents of Tarbagatai region of the Republic of Buryatia was conducted by interviewing and questioning. At the second stage, people with suspected pigment retinitis and their blood relatives underwent a full ophthalmologic examination to confirm the diagnosis, and a thorough collection of genealogical information was carried out to determine the type of inheritance.

Results. 20 patients were allocated from 12 families of 1237 interviewed people aged 15 to 76 years living in a closed community in the territory of Buryatia in the Tarbagatai region, 12 of them with a presumptive diagnosis of retinitis pigmentosa, with signs of Usher syndrome (retinitis pigmentosa + sensorineural hearing loss) – 8 people. In general, the analysis of 20 pedigrees with an established type of inheritance in 89.9 % of cases revealed an autosomal recessive type; in 10.1 % – autosomal dominant type of retinitis pigmentosa.

Conclusion. A complete collection of genealogical history is the basis for the diagnosis of hereditary eye diseases.

1. Zhukova SI, Shchuko AG, Malyshev VV. Pigmentary retinopathy: guidelines. Moscow: GEOTAR-Media; 2010. (In Russ.)

2. Shamshinova AM. (ed.) Hereditary and congenital diseases of the retina and optic nerve. Moscow: Meditsina; 2001. (In Russ.)

3. Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Mol Vis. 2003; 9: 49-51.

4. Atmaca LS, Sayli BS, Akarsu N, Gündüz K. Genetic features of retinitis pigmentosa inTurkey. Doc Ophthalmol. 1995; 89(4): 337-392.

5. Ayuso C, Garcia-Sandoval B, Najera C, Valverde D, Carballo M, Antiñolo G. Retinitis pigmentosa in Spain. Clin Genet. 1995; 48(3): 120-122. doi: 10.1111/j.1399-0004.1995.tb04069.x

6. Hayakawa M, Fujiki K, Kanai A, Matsumura M, Honda Y, Sakaue H, et al. Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa. Jpn JOphthalmol. 1997; 41(1): 7-11. doi: 10.1016/S0021-5155(96)00019-6

7. Vinchurkar MS, Sathye SM, Dikshit M. Retinitis pigmentosa genetic: a study in Indian population. Indian J Ophthalmol. 1996; 44(2): 77-82.

8. Hu DN. Prevalence and mode inheritance of major genetic eye diseases in China. J Med Genet. 1987; 24(10): 584-588. doi: 10.1136/jmg.24.10.584

9. Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, et al. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018; 66: 157-186. doi: 10.1016/j.preteyeres.2018.03.005

10. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (RDS). Nature. 1989; 338: 70-73. doi: 10.1038/338070a0

11. Connell G, Bascom R, Molday L, Reid D, McInnes RR, Molday RS. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci USA. 1990; 88(3): 723-726. doi: 10.1073/pnas.88.3.723

12. Franke RR, König B, Sakmar TP, Khorana HG, Hofmann KP. Rhodopsin mutants that bind but fail to activate transducing. Science. 1992; 250(4977): 123-125. doi: 10.1126/science.2218504

13. Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990; 323(19): 1302-1307. doi: 10.1056/NEJM199011083231903

14. Peachey NS, Fishman GA, Kilbride PE, Alexander KR, Keehan KM, Derlacki DJ. A form of congenital stationary night blindness with apparent defect of rod phototransduction. Invest Ophthalmol Vis Sci. 1990; 31(2): 237-246.

15. Kozlova SI, Demikova NS, Semanova E, Blinnikova OE. Hereditary syndromes and medical genetic counseling; 2nd ed. Moscow: Praktika; 1996. (In Russ.)