Офтальмохирургия. 2015; : 97-100
Клинико-генетические аспекты наследственных дистрофий роговицы
https://doi.org/undefinedАннотация
В представленном обзоре литературы освещены клинико-генетические аспекты врожденных и генетически детерминированных дистрофий роговицы. Разработка новых подходов, основанных на сочетанном изучении клинических признаков заболевания и их корреляции с результатами генетического анализа, представляет собой фундамент для комплексной патогенетически ориентированной диагностики наследственных дистрофий роговицы.
Список литературы
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4. Aldave A.J., Rayner S.A., King J.A., Affeldt J.A., Yellore V.S. A unique corneal dystrophy of Bowman’s layer and stroma associated with the Gly623Asp mutation in the transforming growth factor betainduced (TGFBI) gene // Ophthalmology. – 2005. – Vol. 112, № 6. – P. 1017-1022.
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6. Biswas S., Munier F.L., Yardley J. et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy // Hum. Mol. Genet. – 2001. – Vol. 10, № 21. – P. 2415-2423.
7. Butros S., Lang G.K., Alvarez de Toledo J. et al. The different opacity patterns of Lisch corneal dystrophy // Klin. Monbl. Augenheilkd. – 2006. – Vol. 223, № 10. – P. 837-840.
8. Chen S., Sun M., Meng X. et al. Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycans // Am. J. Pathol. – 2011. – Vol. 179, № 5. – P. 2409-2419.
9. Ehlers N., Hjortdal J., Nielsen K. et al. Phenotypic variability in Meesmann’s dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family // Acta Ophthalmol. – 2008. – Vol. 86, № 1. – P. 40-44.
10. Gottsch J.D., Sundin O.H., Rencs E.V. et al. Analysis and documentation of progression of Fuchs corneal dystrophy with retroillumination photography // Cornea. – 2006. – Vol. 25, № 4. – P. 485-489.
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12. Hussain E., Behrooz A., Ula V. Fuchs Endothelial Corneal Dystrophy // Ocul. Surf. – 2010. – Vol. 8, № 4. – P. 173-184.
13. Klintworth G.K. Corneal dystrophies. In Ocular Pathology Update / Ed. by Nicholson D.H. – New York: Masson, 1980. – P. 23-54.
14. Kotulak J.C., Brungardt T. Age-related changes in the cornea // J. Am. Optom. Assoc. – 1980. – Vol. 51, № 8. – P. 761-765.
15. Krachmer J.H., Purcell J.J. Jr., Young C.W., Bucher K.D. Corneal endothelial dystrophy. A study of 64 families // Arch. Ophthalmol. – 1978. – Vol. 96. – P. 2036-2039.
16. Li D., Qi Y., Wang L. et al. An atypical phenotype of Reis-Bucklers corneal dystrophy caused by the G623D mutation in TGFBI // Mol. Vis. – 2008. – Vol. 14. – P. 1298-1302.
17. Lisch W., Seitz B. Lattice corneal dystrophy type 1: an epithelial or stromal entity? // Cornea. – 2014. – Vol. 33, № 10. – P. 1109-1112.
18. Louttit M.D., Kopplin L.J., Igo R.P. et al. A Multi-Center Study to Map Genes for Fuchs’ Endothelial Corneal Dystrophy: Baseline Characteristics and Heritability // Cornea. – 2012. – Vol. 31, № 1. – P. 26-35.
19. Mellgren A.E., Bruland O., Vedeler A. et al. Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin // Invest Ophthalmol. Vis. Sci. – 2015. – Vol. 56, № 5. – P. 2909-2915.
20. Paugh J.R., Quinn T.G. Polymorphic corneal abnormalities // J. Am. Optom. Assoc. – 1984. – Vol. 55, № 5. – P. 347-352.
21. Poulaki V., Colby K. Genetics of anterior and stromal corneal dystrophies // Semin. Ophthalmol. – 2008. – Vol. 23, № 1. – P. 9-17.
22. Siddiqui S., Zenteno J.C., Rice A. et al. Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome // Cornea. – 2014. – Vol. 33, № 3. – P. 247-251.
23. Szaflik J.P., Ołdak M., Maksym R.B. et al. Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotypephenotype correlation // Mol. Vis. – 2008. – Vol. 14. – P. 1713-1718.
24. Vincent A.L. Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review // Clin. Experiment Ophthalmol. – 2014. – Vol. 42, № 1. – P. 4-12.
25. Vithana E.N., Morgan P.E., Ramprasad V. et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy // Hum. Mol. Genet. – 2008. – Vol. 17. – P. 656-666.
26. Weiss J.S., Møller H.U., Aldave A.J. et al. IC3D classification of corneal dystrophies - edition 2 // Cornea. – 2015. – Vol. 34, № 2. – P. 117-159.
Fyodorov Journal of Ophthalmic Surgery. 2015; : 97-100
Clinical and genetic aspects of hereditary corneal dystrophies
https://doi.org/undefinedAbstract
This review includes the clinical and genetic aspects of congenital and genetically determined dystrophies of the cornea. Development of new approaches based on the study of clinical signs of the disease and their correlation with the results of genetic analysis is a foundation for the complex pathogenically oriented diagnosis of hereditary corneal dystrophies.
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3. Aldave A.J., Han J., Frausto R.F. Genetics of the corneal endothelial dystrophies: an evidence-based review // Clin. Genet. – 2013. – Vol. 84, № 2. – P. 109- 119.
4. Aldave A.J., Rayner S.A., King J.A., Affeldt J.A., Yellore V.S. A unique corneal dystrophy of Bowman’s layer and stroma associated with the Gly623Asp mutation in the transforming growth factor betainduced (TGFBI) gene // Ophthalmology. – 2005. – Vol. 112, № 6. – P. 1017-1022.
5. Auw-Hädrich C., Witschel H. Corneal dystrophies in the light of modern molecular genetic research // Ophthalmologe. – 2002. – Vol. 99, № 6. – P. 418-426.
6. Biswas S., Munier F.L., Yardley J. et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy // Hum. Mol. Genet. – 2001. – Vol. 10, № 21. – P. 2415-2423.
7. Butros S., Lang G.K., Alvarez de Toledo J. et al. The different opacity patterns of Lisch corneal dystrophy // Klin. Monbl. Augenheilkd. – 2006. – Vol. 223, № 10. – P. 837-840.
8. Chen S., Sun M., Meng X. et al. Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycans // Am. J. Pathol. – 2011. – Vol. 179, № 5. – P. 2409-2419.
9. Ehlers N., Hjortdal J., Nielsen K. et al. Phenotypic variability in Meesmann’s dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family // Acta Ophthalmol. – 2008. – Vol. 86, № 1. – P. 40-44.
10. Gottsch J.D., Sundin O.H., Rencs E.V. et al. Analysis and documentation of progression of Fuchs corneal dystrophy with retroillumination photography // Cornea. – 2006. – Vol. 25, № 4. – P. 485-489.
11. Holland E.J., Daya S.M., Stone E.M. et al. Avellino corneal dystrophy. Clinical manifestations and natural history // Ophthalmology. – 1992. – Vol. 99. – P. 1564-1568.
12. Hussain E., Behrooz A., Ula V. Fuchs Endothelial Corneal Dystrophy // Ocul. Surf. – 2010. – Vol. 8, № 4. – P. 173-184.
13. Klintworth G.K. Corneal dystrophies. In Ocular Pathology Update / Ed. by Nicholson D.H. – New York: Masson, 1980. – P. 23-54.
14. Kotulak J.C., Brungardt T. Age-related changes in the cornea // J. Am. Optom. Assoc. – 1980. – Vol. 51, № 8. – P. 761-765.
15. Krachmer J.H., Purcell J.J. Jr., Young C.W., Bucher K.D. Corneal endothelial dystrophy. A study of 64 families // Arch. Ophthalmol. – 1978. – Vol. 96. – P. 2036-2039.
16. Li D., Qi Y., Wang L. et al. An atypical phenotype of Reis-Bucklers corneal dystrophy caused by the G623D mutation in TGFBI // Mol. Vis. – 2008. – Vol. 14. – P. 1298-1302.
17. Lisch W., Seitz B. Lattice corneal dystrophy type 1: an epithelial or stromal entity? // Cornea. – 2014. – Vol. 33, № 10. – P. 1109-1112.
18. Louttit M.D., Kopplin L.J., Igo R.P. et al. A Multi-Center Study to Map Genes for Fuchs’ Endothelial Corneal Dystrophy: Baseline Characteristics and Heritability // Cornea. – 2012. – Vol. 31, № 1. – P. 26-35.
19. Mellgren A.E., Bruland O., Vedeler A. et al. Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin // Invest Ophthalmol. Vis. Sci. – 2015. – Vol. 56, № 5. – P. 2909-2915.
20. Paugh J.R., Quinn T.G. Polymorphic corneal abnormalities // J. Am. Optom. Assoc. – 1984. – Vol. 55, № 5. – P. 347-352.
21. Poulaki V., Colby K. Genetics of anterior and stromal corneal dystrophies // Semin. Ophthalmol. – 2008. – Vol. 23, № 1. – P. 9-17.
22. Siddiqui S., Zenteno J.C., Rice A. et al. Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome // Cornea. – 2014. – Vol. 33, № 3. – P. 247-251.
23. Szaflik J.P., Ołdak M., Maksym R.B. et al. Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotypephenotype correlation // Mol. Vis. – 2008. – Vol. 14. – P. 1713-1718.
24. Vincent A.L. Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review // Clin. Experiment Ophthalmol. – 2014. – Vol. 42, № 1. – P. 4-12.
25. Vithana E.N., Morgan P.E., Ramprasad V. et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy // Hum. Mol. Genet. – 2008. – Vol. 17. – P. 656-666.
26. Weiss J.S., Møller H.U., Aldave A.J. et al. IC3D classification of corneal dystrophies - edition 2 // Cornea. – 2015. – Vol. 34, № 2. – P. 117-159.
