References

medgen

Медицинская генетика

Medical Genetics

2073-7998

Publishing House «Genius Media» LLC

medgen-322

Research Article

НАУЧНЫЕ ОБЗОРЫ

REVIEW

Клинико-генетическая характеристика наследственных заболеваний и синдромов с глаукомой

Clinical and genetic characteristics of hereditary diseases and syndromes with glaucoma

Хлебникова

О. В.

Khlebnikova

O. V.

noemail@neicon.ru

Дадали

Е. Л.

Dadali

E. L.

noemail@neicon.ru

ФГБНУ «МГНЦ»РоссияResearch Centre for Medical GeneticsRussian Federation

2017

20022018

16939

2018

Хлебникова О.В., Дадали Е.Л.

Khlebnikova O.V., Dadali E.L.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.medgen-journal.ru/jour/article/view/322

В статье представлена клинико-генетическая характеристика наследственных заболеваний, синдромов с глаукомой. В настоящее время известно 36 клинико-генетических вариантов с врожденной и ювенильной глаукомой. В 72,2% случаев врожденная и юношеская глаукома сочетается с патологией центральной нервной системы, микроцефалией, умственной отсталостью. Кроме этого, описаны пациенты со скелетными аномалиями, своеобразным строением лица, патологией кожи, суставов, почек, сердца, гемангиоматозом, гранулематозом. Тяжесть и вариабельность клинических проявлений наследственных заболеваний и синдромов с врожденной или юношеской глаукомой указывают на необходимость ранней диагностики, комплексного обследования пациентов у офтальмологов, педиатров, неврологов, ортопедов. Учитывая, что в 44,4% случаев патология наследуется аутосомно-доминантно или Х-сцепленно-доминантно, необходима консультация у врача-генетика семей с врожденной и юношеской глаукомой для верификации клинико-генетического диагноза, определения генетического прогноза и возможностей пренатальной диагностики.

The article presents the clinical-genetic characteristic of the hereditary diseases, syndromes with glaucoma. Currently known 36 clinical-genetic variants with congenital and juvenile glaucoma. In 72.2% of cases of congenital and juvenile glaucoma combined with pathology of the central nervous system microcephaly and mental retardation. In addition identified patients with skeletal abnormalities, an original structure faces, pathology of the skin, joints, kidneys, heart, gemangiomatoz, granulematoz. The severity and variability of clinical manifestations of hereditary diseases and syndromes with congenital or juvenile glaucoma points to the need for early detection, comprehensive examinations of patients from ophthalmologists, pediatricians, neurologists, orthopedists. Given that 44.4% of cases pathology is inherited autosomal dominant or x-forming dominant need to consult a doctor-genetics of families with congenital and juvenile glaucoma for verification of clinical genetic.

врожденнаяглаукомазаболеваниянаследственныесиндромыювенильнаяcongenital glaucomadiseasessyndromesjuvenile

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