Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press10610.17650/2222-8721-2015-1-19-24LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫPompe disease and ophthalmopathy: literature reviewБолезнь Помпе и офтальмопатия: обзор литературыBrignolTuy Nga
Russian Federation

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tnbrignol@afm-telethon.frUrtizbereaJ. Andoni
Russian Federation
ja.urtizberea@free.frAFM-TéléthonPraticien hospitalier, MPR, Hôpital Marin de Hendaye220520155119242105201521052015Copyright ©; 2015, Brignol T., Urtizberea J.Copyright ©; 2015, Brignol T., Urtizberea J.2015Brignol T., Urtizberea J.Brignol T., Urtizberea J.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/106

Large number of ophthalmological problems has been found in patients with glycogenosis type II (Pompe disease, PD). Since enzyme replacement therapy (ERT) has been introduced ophthalmic examination in the routine follow-up gained a special role in infantile-onset Pompe disease and prolonged survival. Currently a number of cases with ophthalmic disorder as the first sign of PD is known. Histopathological features of glycogen deposits in various eye structures has been described. Current review summarizes PubMed data on ophthalmopathy in PD.

Широкий круг офтальмопатий был обнаружен у лиц, страдающих гликогенозом II типа (болезнь Помпе, БП). Обследование офтальмологом пациентов с младенческой формой БП приобрело особое значение с появлением ферментной заместительной терапии и становится обязательным с учетом цели улучшения прогноза выживаемости и качества жизни пациентов. Описаны случаи клинического дебюта БП в виде офтальмических нарушений. Представлены данные, подтверждающие патологическое накопление гликогена в разных отделах зрительного анализатора. Настоящая публикация представляет собой обзор литературы и основана на данных поисковой системы PubMed.

Перевод: Мария Олеговна Ковальчук

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