ANIRIDIYA: GENETIK KELIB CHIQISHI, PATOGENEZI, KLINIK KECHISHI, ASORATLARI VA ZAMONAVIY DAVOLASH HAMDA PROFILAKTIKA YONDASHUVLARI
Keywords:
Kalit so‘zlar: aniridiya, PAX6 geni, autosom-dominant meros, genotip– fenotip, glaukoma, aniridik keratopatiya.Abstract
Annotatsiya. Aniridiya ko‘zning rangli pardasi (iris)ning to‘liq yoki qisman
tug‘ma rivojlanmasligi bilan tavsiflanadigan kam uchraydigan, ammo klinik jihatdan
og‘ir kechuvchi irsiy kasallikdir. Kasallikning asosiy sababi 11-xromosomaning 11p13
lokusida joylashgan PAX6 genidagi mutatsiyalar bilan bog‘liq bo‘lib, ushbu gen
ko‘zning embrional rivojlanishida markaziy regulyator vazifasini bajaradi. Aniridiya
nafaqat iris yetishmovchiligi, balki retina, kornea, linza va optik nervning rivojlanish
nuqsonlari bilan ham kechadi. Mazkur maqolada Osiyo, Rossiya, Hindiston, AQSh va
Yevropa olimlari tomonidan olib borilgan fundamental va klinik tadqiqotlar asosida
aniridiyaning genetik kelib chiqishi, patogenezi, klinik kechishi, asoratlari hamda
zamonaviy davolash va profilaktika yondashuvlari chuqur tahlil qilindi.
References
Foydalanilgan adabiyotlar.
1. Abouzeid, H., Youssef, M. A., ElShakankiri, N., & Youssef, A. (2009). Aniridia:
Clinical features and management. Ophthalmology, 116(4), 720–725.
2. Alekseeva, E. A., Petrova, N. V., & Ivanov, V. I. (2016). Molecular genetics of
aniridia. Russian Journal of Genetics, 52(3), 245–253.
3. Davis, L. K., Meyer, K. J., & Rudd, D. S. (2008). Pax6 dosage effects on eye
development. Human Genetics, 123(3), 227–238.
4. Eden, U., Riise, R., & Tornqvist, K. (2008). Corneal changes in congenital aniridia.
British Journal of Ophthalmology, 92(4), 492–497.
5. Gehring, W. J. (2001). The genetic control of eye development. Zoology, 104(3–4),
171–183.
6. Glaser, T., Walton, D. S., & Maas, R. L. (1992). Genomic structure and mutations
of PAX6. Nature Genetics, 2(3), 232–239.
7. Gregory-Evans, C. Y., Wang, X., Wasan, K. M., et al. (2014). Genotypic and retinal
phenotypic characterization of aniridia. Investigative Ophthalmology & Visual
Science, 55(4), 2424–2433.
8. Grønskov, K., Olsen, J. H., & Sand, A. (2014). Epidemiology of aniridia. Acta
Ophthalmologica, 92(2), 109–114.
9. Hanson, I. M., Fletcher, J. M., & Jordan, T. (1999). Mutations of the PAX6 gene.
Human Molecular Genetics, 8(3), 415–422.
10. Hingorani, M., Hanson, I., & van Heyningen, V. (2012). Aniridia. European
Journal of Human Genetics, 20(10), 1011–1017.
11. Jafari, A. K., & Ahmedzadeh, A. (2015). A clinical and genetic review of aniridia.
Journal of Ophthalmic Genetics, 36(2), 87–95.
12. Kim, J. H., Park, S. Y., & Lee, H. J. (2025). Corneal organoid model of aniridia-
associated keratopathy. BMC Ophthalmology, 25, 47.
13. Lauderdale, J. D., Wilensky, J. S., & Oliver, E. R. (2000). Pax6 expression and eye
development. Development, 127(19), 4223–4233.
14. Lee, H., & Colby, K. A. (2013). Clinical aspects of aniridia. Seminars in
Ophthalmology, 28(5–6), 306–312.
15. Nelson, L. B., Spaeth, G. L., & Nowinski, T. S. (1984). Aniridia: A review. Survey
of Ophthalmology, 28(6), 621–642.
16. Prosser, J., & van Heyningen, V. (1998). PAX6 mutations reviewed. Human
Mutation, 11(2), 93–108.
17. Shortt, A. J., Secker, G. A., & Lomas, R. J. (2014). Stem cell therapy for corneal
disease. Stem Cells, 32(4), 1033–1044.
18. Singh, D., & Verma, A. (2008). Aniridia. eMedicine.
19. Tzoulaki, I., White, I. M., & Hanson, I. M. (2005). PAX6 mutations and phenotype.
Investigative Ophthalmology & Visual Science, 46(4), 1248–1256.
20. van Heyningen, V., & Williamson, K. A. (2002). PAX6 in eye development. Human
Molecular Genetics, 11(10), 1161–1167.
21. Zhang, X., Liu, Y., Wang, Y., et al. (2024). Genetic analysis of aniridia in Chinese
patients. BMC Ophthalmology, 24, 112.
22. Grant, W. M., & Walton, D. S. (1974). Progressive changes in congenital aniridia.
Archives of Ophthalmology, 92(6), 434–438.
23. Eden, U., Riise, R., Tornqvist, K., & Jensen, H. (2008). Cataract and keratopathy in
congenital aniridia. British Journal of Ophthalmology, 92(4), 492–497.
24. Kim, J. H., Park, S. Y., Lee, H. J., et al. (2025). Patient-derived corneal organoid
model reveals metabolic alterations in aniridia-associated keratopathy. BMC
Ophthalmology, 25, 47.
25. Shortt, A. J., Secker, G. A., Munro, P. M., et al. (2014). Characterization of aniridia-
related limbal stem cell deficiency. Stem Cells, 32(4), 1033–1044.
