ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2024.85.33ymj-396Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCLINICAL CASEВрожденная аутосомно-рецессивная катаракта у ребенка сахаCongenital autosomal recessive cataract in a Sakha childСаввинаМ. С.SavvinaM. S.

САВВИНА Майя Семеновна – к.м.н., с.н.с. 

SAVVINA Maya Semenovna – PhD, senior researcher at the laboratory for monitoring the health of children

ИвановаО. Н.IvanovaO. N.

ИВАНОВА Ольга Николаевна – д.м.н., проф. 

IVANOVA Olga Nikolaevna – MD, Professor of the Department of Pediatrics and Pediatric Surgery

ЕгороваВ. Б.EgorovaV. B.

ЕГОРОВА Вера Борисовна – к.м.н., доцент 

EGOROVA Vera Borisovna – PhD, Associate Professor of the Department of Pediatrics and Pediatric Surgery

БурцеваТ. Е.BurtsevaT. E.

БУРЦЕВА Татьяна Егоровна – д.м.н., проф.; в.н.с.-руковод. лаб. 

BURTSEVA Tatyana Egorovna – MD, Professor of the Department of Pediatrics and Pediatric Surgery; Head of the laboratory 

ЯНЦ КМПРоссияYSC CMPRussian FederationМИ СВФУ им. М.К. АммосоваРоссияM.K. Ammosov NEFU, Medical InstituteRussian FederationМИ СВФУ им. М.К. Аммосова; ЯНЦ КМПРоссияM.K. Ammosov NEFU, Medical Institute; YSC KMPRussian Federation20241902202501131133Copyright © Саввина М.С., Иванова О.Н., Егорова В.Б., Бурцева Т.Е., 20252025Саввина М.С., Иванова О.Н., Егорова В.Б., Бурцева Т.Е.Savvina M.S., Ivanova O.N., Egorova V.B., Burtseva T.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/396

В статье представлен клинический случай врожденной аутосомно-рецессивной катаракты, впервые выявленный у ребенка саха 3 лет. Врожденная катаракта – относительно редкая патология, встречающаяся у детей, но часто является причиной слабовидения и слепоты. От раннего выявления и лечения заболевания зависит восстановление зрения ребенка. Исследования показывают, что от 30 до 50% врожденных катаракт вызваны генетическими мутациями.

The article presents a clinical case of congenital autosomal recessive cataract, first identified in a 3-year-old Sakha child. Congenital cataract is a relatively rare pathology found in children, but it is often the cause of visual impairment and blindness. The restoration of a child's eyesight depends on the early detection and treatment of the disease. Studies show that 30 to 50% of congenital cataracts are caused by genetic mutations.

врожденная катарактадетипороки развитиягенетикаcongenital cataractschildmalformationgeneticsReferencesДиагностика, мониторинг и лечение детей с врожденной катарактой / Л.А. Катаргина [и др.] // Детская офтальмология. Федеральные клинические рекомендации. СПб., 2016.Katargina L.A. [et al.] Diagnostika, monitoring i lechenie detej s vrozhdennoj kataraktoj [Diagnosis, monitoring and treatment of children with congenital cataract]. Detskaya oftal'mologiya. Federal'nye klinicheskie rekomendacii [Pediatric ophthalmology. Federal Guidelines. SPb. 2016 (In Russ.).]Diagnosis, monitoring and treatment of children with congenital cataract / Katargina L.A. [et al.] // Pediatric ophthalmology. Federal Guidelines. SPb. 2016.Mikhaylova L.A., Katargina L.A. Resursy detskoj oftal'mologicheskoj sluzhby v Rossijskoj Federacii i effektivnost' ih ispol'zovaniya [Resources of the Childrens Ophthalmic Service in the Russian Federation and their efficiency]. 2021; 16(4); 47 – 54. Doi: 10.17816 / rpoj84931.Михайлова Л.А., Катаргина Л.А. Ресурсы детской офтальмологической службы в Российской Федерации и эффективность их использования // 2021. Т.16. №4. С. 47 – 54. Doi: 10.17816 / rpoj84931.Katargina L.A. [et al.] Reabilitaciya detej posle ekstrakcii vrozhdennyh katarakt [Rehabilitation of children after extraction of congenital cataracts]. Rossijskaya pediatricheskaya oftal'mologiya [Russian Pediatric Ophthalmology. 2015; 4:38 – 42 (In Russ.).] Doi: 10.17816 / rpoi37706.Mikhaylova L.A., Katargina L.A. Resources of the Childrens Ophthalmic Service in the Russian Federation and their efficiency // 2021. V.16. №4. P. 47 – 54. Doi: 10.17816 / rpoj84931.Yegiyan N.C. [et al.] Rol' pediatra v lechenii detej s vrozhdennymi kataraktami [Role of pediatrician in the treatment of children with congenital cataracts]. Rossijskij vestnik perinatologii i pediatrii [Russian bulletin of Perinatology and Pediatrics. 2019; 64(5): 134 – 139 (In Russ.).] Doi: 10.21508/1027-4065-2019-64-5-134-139.Реабилитация детей после экстракции врожденных катаракт / Л.А. Катаргина [и др.] // Российская педиатрическая офтальмология. 2015. №4. С. 38 – 42. Doi: 10.17816 / rpoj37706.Barashkov, N.A., Konovalov, F.A., Borisova, T.V. et al. Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene. Eur J Hum Genet. 2021; 29: 965–976. https://doi.org/10.1038/s41431-02100833-wRehabilitation of children after extraction of congenital cataracts / Katargina L.A. [et al.] // Russian Pediatric Ophthalmology. 2015. №4. P. 38 – 42. Doi: 10.17816 / rpoi37706.Berry V., Georgiou M., Fujinami K. et al. Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches. Br. J. Ophthalmol. 2020; 104(10): 1331 – 1337. Doi: 10.1136/biophthalmol – 2019 – 315282.Роль педиатра в лечении детей с врожденными катарактами / Н.С. Егиян [и др.] // Российский вестник перинатологии и педиатрии. 2019. 64(5). С. 134 – 139. Doi: 10.21508/10274065-2019-64-5-134-139.Chograni M., Alahdal H., Rejili M. Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10 orf 71 human gene. J.Hum. Genomic. 2023. May 13; 17(1): 41. Doi: 10.1186 / S40246 – 023 – 00492 – 6.Role of pediatrician in the treatment of children with congenital cataracts / Yegiyan N.C. [et al.] // Russian bulletin of Perinatology and Pediatrics. 2019. 64(5). P. 134 – 139. Doi: 10.21508/1027-4065-2019-64-5-134-139.Katre D., Selikar K. The prevalence of cataract in children. Cureus 14(10). C. 30135. Doi: 10.7759/cureus. 30135.Barashkov, N.A., Konovalov, F.A., Borisova, T.V. [et al.] Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene. Eur J Hum Genet. 2021. 29. P. 965–976. https://doi.org/10.1038/s41431-02100833-wMagli A, Carelli R, Forte R et al. Congenital and developmental cataracts: Focus on strabismus outcomes at long – term follow – up. Semin. ophthalmol. 2017: 32(3): 358 – 362. Doi: 10.3109 / 08820538. 2015. 1098305.Berry V., Georgiou M., Fujinami K. [et al.] Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches. Br. J. Ophthalmol. 2020. 104(10). P.1331 – 1337. Doi: 10.1136 / biophthalmol – 2019 – 315282.Medsinge A., Nischal K. Pediatric cataract: challenges and future directions. Clin. Ophthalmol. 2015; 7(9): 77 – 90. Doi: 10.2147/OPTH. S59009.Chograni M., Alahdal H., Rejili M. Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10 orf 71 human gene. J. Hum. Genomic. 2023. May 13. 17(1): 41. Doi: 10.1186 / S40246 – 023 – 00492 – 6.Pichi F., Lembo A., Scrafino M. et al. Genetics of congenital cataract. Dev. Ophthalmol. 2016; 57: 1 -14. Doi: 10.1159/000442495.Katre D., Selikar K. The prevalence of cataract in children. Cureus 14(10). C. 30135. Doi: 10.7759 / cureus. 30135.Sheeladevi S.. Lawrenson J.G., Fielder A.R. et al. Global prevalence of childhood cataract: a systematic review. Eye 30. 2016: 1160 – 1169. Doi: 10.1038 / eye/ 2016.156.Magli A., Carelli R., Forte R et al. Congenital and developmental cataracts: Focus on strabismus outcomes at long – term follow – up. Semin. ophthalmol. 2017. 32(3). P.358 – 362. Doi: 10.3109 / 08820538. 2015. 1098305.Tartarella M.B., Britez – Colombi G.F., Milhomen S. et al. Pediatric cataracts: clinical aspects, frequency of strabismus and chronological, etiological and morphological features. Arg, Bras. Ophthalmol. 2014; 77(3): 143 – 147. Doi: 10.5935 / 0004 – 2749. 20140037.Medsinge A., Nischal K. Pediatric cataract: challenges and future directions. Clin. Ophthalmol. 2015. 7(9). P.77 – 90. Doi: 10.2147 / OPTH. S59009.Wu X., Long E., Lin H. et al. Prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis. Sci. Rep. 2016; 6: 1 – 10. Doi: 10.1038 / 28564.Pichi F., Lembo A., Scrafino M. et al. Genetics of congenital cataract. Dev. Ophthalmol. 2016. 57. P.1 -14. Doi: 10.1159 / 000442495.Pichi F., Lembo A., Scrafino M. et al. Genetics of congenital cataract. Dev. Ophthalmol. 2016. 57. P.1 -14. Doi: 10.1159 / 000442495.Sheeladevi S.. Lawrenson J.G., Fielder A.R. et al. Global prevalence of childhood cataract: a systematic review. Eye 30. 2016. P. 1160 – 1169. Doi: 10.1038/eye/2016.156.Sheeladevi S.. Lawrenson J.G., Fielder A.R. et al. Global prevalence of childhood cataract: a systematic review. Eye 30. 2016. P. 1160 – 1169. Doi: 10.1038/eye/2016.156.Tartarella M.B., Britez – Colombi G.F., Milhomen S. et al. Pediatric cataracts: clinical aspects, frequency of strabismus and chronological, etiological and morphological features. Arg, Bras. Ophthalmol. 2014. 77(3). P. 143 – 147. Doi: 10.5935 / 0004 – 2749. 20140037.Tartarella M.B., Britez – Colombi G.F., Milhomen S. et al. Pediatric cataracts: clinical aspects, frequency of strabismus and chronological, etiological and morphological features. Arg, Bras. Ophthalmol. 2014. 77(3). P. 143 – 147. Doi: 10.5935 / 0004 – 2749. 20140037.Wu X., Long E., Lin H. et al. Prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta – analysis. Sci. Rep. 2016. 6. P. 1 – 10. Doi: 10.1038/28564.Wu X., Long E., Lin H. et al. Prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta – analysis. Sci. Rep. 2016. 6. P. 1 – 10. Doi: 10.1038/28564.

The authors declare that there are no conflicts of interest present.