Резюме
Вітовська О.П.¹, Пічкур Н.О.², Сковпень Т.В.³ Войтко Л.О.⁴ Патологічні зміни органа зору у пацієнтів з мукополісахаридозом.
Спадкові хвороби органа зору являється причиною сліпоти приблизно в 42-84% випадків і посідають важливе місце у ланці охорони здоров’я, оскільки є основним чинником інвалідизації дитячого населення. Діагностика МПС є важливою на ранніх етапах прояву захворювання, оскільки дає можливість своєчасно розпочати замісну терапію та адекватну симптоматичну терапію і, таким чином, зберегти якість життя пацієнтів. Ключові слова: мукополісахаридози, офтальмогенетика, глікозаміноглікани, спадкові хвороби.

Резюме
Витовская О.П.; Пичкур Н.А.; Сковпень Т.В.; Войтко Л.А. Патологические изменения органа зрения у пациентов с мукополисахаридозом.
Наследственные заболевания органа зрения являються причиной слепоты приблизительно в 42- 84 % случав и занимают важное место в структуре охраны здоровья, поскольку являються основным фактором инвалидизации детского населения. Диагностика МПС является важной на ранних етапах проявления заболевания, поскольку дает возможность своевременно начать заместительную терапию и адекватную симптоматическую терапию, таким образом сохранить качество жизни пациентов.
Ключевые слова: мукополисахаридозы, офтальмогенетика, гликозаминогликаны, наследственние заболевания.

Summary
Vitovska O., Pichkur N., Scovpen T., Voitko L. Eye pathology of patients with mucopolysaccaridosis.
Heritable disease of eyes is at bottom of blindness in 42-84% cases and account for child disability. Screening and early diagnosis of mucopolysaccaridosis by family doctors and ophthalmologist are important factor in prophylaxis disability.
Key words: mucopolysaccaridosis, oftalmogenetika, glycosaminoglycans, hereditary diseases.

Рецензент: д. мед.н., проф. А.М. Петруня

УДК 617.7:616:575

¹Національний медичний університет імені О.О. Богомольця

Национальный медицинский университет имени А. А. Богомольца (Киев)

O.O. Bogomolets National medical university (Kyiv)

²Київський міський метаболічний центр

Киевский городской метаболический центр

Kyiv city metabolic center

³Український медичний центр дитячої офтальмології та мікрохірургії ока

⁴НДСЛ «ОХМАТДИТ»

Национальная детская специализированная больница "ОХМАДЕТ"

National Children's Specialized Hospital "OHMATDYT"

¹oksanavit@mail.ru,  ²pichkurnat@mail.ru, ³scovpent@gmail.com, ⁴lesia.voitko@gmail.com

 According to literature, data near 5% of newborn child have different genetic pathology. Heritable disease of eyes is at bottom of blindness in 42-84% cases and account for child disability. Medical genetic provides for prophylaxis’s methods and treatment of heritable disease, so medico- genetic consultation is important compose of modern ophthalmology. The purpose of this work is to study the period of mucopolysaccaridosis manifestation of according to literature data in period from 1992 to 2013 year. Diagnosis of mucopolysaccharidosis (MPS) requires awareness of the multisystem disease manifestations and their diverse presentation in terms of time of onset and severity. Many patients with MPS remain undiagnosed for years and progressively develop irreversible pathologies, which ultimately lead to premature death. To foster timely treatment and ensure a better outcome, it is of utmost importance to recognize and evaluate the typical ocular features that present fairly early in the course of the disease in many children with MPS. The eye manifestations of mucopolysaccaridosis are corneal opacity, ophthalmohypertension, glaucoma, retinal dystrophy, atrophy and edema of optical nerve, psevdoexophtalmus, strabismus, hypermetropia and astigmatism. Eye manifestations develop on stage of mucopolysaccaridosis. Screening and early diagnosis of mucopolysaccaridosis by family doctors and ophthalmologist are important factor in prophylaxis disability. Taking into account the number of eye manifestation of heritable disease, it is necessary to improve training program for ophthalmologist.

The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders that are characterized by defective breakdown of glycosaminoglycans (GAGs). These inborn metabolic diseases are caused by functional mutations of specific catabolic lysosomal enzymes, resulting in progressive GAG accumulation in tissues and organs throughout the body. Most MPS patients appear normal at birth, but develop progressive multisystemic disease manifestations that can affect bones and joints, eyes, heart, respiratory system and neurocognition. Diagnostic delays are unfortunately very commonly due to lack of disease awareness and the non-specific nature of many of the signs and symptoms . Too often, patients are referred from specialist to specialist over the course of many years, while the disease progresses and irreversible damage occurs

Ocular features are common and, like musculoskeletal symptoms, often arise fairly early in the course of the disease. Photosensitivity, night blindness, corneal clouding, pseudo-exophthalmos, strabismus and reduced vision can be readily noted or discovered by interviewing the patient or parents and by observing the patient, raising the suspicion of MPS. These patients should be referred to a geneticist, metabolic specialist or paediatrician specialized in MPS for diagnostic evaluation. In addition, they should see an ophthalmologist familiar with MPS for initial assessment and regular follow-up of ocular manifestations within the framework of integrated care (even if no ocular symptoms are immediately evident)..

 An accurate evaluation of the eyes of patients with MPS may be challenging for several reasons. Patients could have photosensitivity or even severe photophobia, which hampers general examination.Corneal clouding can considerably hinder visualization of the fundus, leading to difficulties in diagnosing and monitoring papilloedema, optic nerve atrophy and retinal degeneration.Severe corneal clouding can impede assessment of the drainage angle and optic disc cupping (i.e. cup-to-disc ratio) and as such, mask glaucoma . Glaucoma could also be difficult to diagnose because visual field changes may occur due to retinal degeneration (and vice versa)  and accurate testing may be hampered by associated developmental disability. Corneal thickening and increased corneal rigidity may artificially elevate intraocular pressure values and lead to a false-positive diagnosis of glaucoma . Young patients or those with intellectual disability could be unable or unwilling to cooperate in performing vision tests. Despite these limitations, rheumatologists can be the first to suspect that the ocular findings and joint abnormalities are due to a metabolic disorder such as MPS.

Early and accurate recognition of the disease allows timely therapy that prevents, reverses or ameliorates disease manifestations and, as such, maximizes clinical outcomes and enhances the patient's quality of life. Ocular features are common and, like musculoskeletal symptoms, often arise fairly early in the course of the disease. Photosensitivity, night blindness, corneal clouding, pseudo-exophthalmos, strabismus and reduced vision can be readily noted or discovered by interviewing the patient or parents and by observing the patient, raising the suspicion of MPS. These patients should be referred to a geneticist, metabolic specialist or paediatrician specialized in MPS for diagnostic evaluation. In addition, they should see an ophthalmologist familiar with MPS for initial assessment and regular follow-up of ocular manifestations within the framework of integrated care (even if no ocular symptoms are immediately evident).

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