Congenital autosomal recessive cataract in a Sakha child
https://doi.org/10.25789/YMJ.2024.85.33
Abstract
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.
About the Authors
M. S. Savvina
YSC CMP
Russian Federation
Russian Federation
SAVVINA Maya Semenovna – PhD, senior researcher at the laboratory for monitoring the health of children
O. N. Ivanova
M.K. Ammosov NEFU, Medical Institute
Russian Federation
Russian Federation
IVANOVA Olga Nikolaevna – MD, Professor of the Department of Pediatrics and Pediatric Surgery
V. B. Egorova
M.K. Ammosov NEFU, Medical Institute
Russian Federation
Russian Federation
EGOROVA Vera Borisovna – PhD, Associate Professor of the Department of Pediatrics and Pediatric Surgery
T. E. Burtseva
M.K. Ammosov NEFU, Medical Institute; YSC KMP
Russian Federation
Russian Federation
BURTSEVA Tatyana Egorovna – MD, Professor of the Department of Pediatrics and Pediatric Surgery; Head of the laboratory
References
1. 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.).]
2. 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.
3. 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.
4. 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.
5. 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-w
6. 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.
7. 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.
8. Katre D., Selikar K. The prevalence of cataract in children. Cureus 14(10). C. 30135. Doi: 10.7759/cureus. 30135.
9. 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): 358 – 362. Doi: 10.3109 / 08820538. 2015. 1098305.
10. Medsinge A., Nischal K. Pediatric cataract: challenges and future directions. Clin. Ophthalmol. 2015; 7(9): 77 – 90. Doi: 10.2147/OPTH. S59009.
11. Pichi F., Lembo A., Scrafino M. et al. Genetics of congenital cataract. Dev. Ophthalmol. 2016; 57: 1 -14. Doi: 10.1159/000442495.
12. 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.
13. 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.
14. 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.
Review
For citations:
Savvina M.S., Ivanova O.N., Egorova V.B., Burtseva T.E. Congenital autosomal recessive cataract in a Sakha child. Yakut Medical Journal. 2024;(1):131-133. https://doi.org/10.25789/YMJ.2024.85.33
Views:
12
Email this article 