Ophthalmic features of mucolipidosis type I (sialidosis): a clinical case. Ophthalmology aspects for neurologists and pediatricians

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Abstract

A very rare clinical case of a juvenile form of a storage disease mucolipidosis type I (sialidosis) is presented. Ophthalmic features include a bilateral macular cherry-red spot. Bilateral macular optical coherence tomography (OCT) revealed hyper-reflectivity of the ganglion cell layer.

CONCLUSION: A cherry-red spot is specific not only for central retinal artery occlusion but also for storage diseases, such as gangliosidoses (Tay-Sachs disease, Sandhoff disease, etc.), mucolipidoses, etc. Ophthalmological examination may be the only key to identify serious systemic diseases, and timely genetic testing might be crucial for a child to determine the adequate therapy. This case was characterized by a typical ophthalmic presentation of sialidosis type I with unclear neurological symptoms suggestive of Tay-Sachs disease. Ophthalmological examination revealed a cherry-red spot with a slow progressing decrease in best-corrected visual acuity (BCVA) which is typical for sialidosis type I but not for Tay-Sachs disease. A neurologist observed the symptoms more characteristic of Tay-Sachs disease than sialidosis type I; they included unsteady gait, ataxia, and dysarthria. There was no myoclonic activity characteristic of sialidosis type I. Thus, genetic testing to identify NEU1 mutations was the only method to objectively examine the patient and determine possible supportive therapy.

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About the authors

Marina V. Gatsu

Saint Petersburg Branch of the Fedorov Eye Microsurgery Complex

Email: alshilov1995@mail.ru
ORCID iD: 0000-0002-9357-5801

MD, Dr. Sci. (Medicine)

Russian Federation, Saint Petersburg

Kristina К. Shefer

Saint Petersburg Branch of the Fedorov Eye Microsurgery Complex; North-Western State Medical University named after I.I. Mechnikov

Email: kristinashefer@yahoo.com
ORCID iD: 0000-0003-0568-6593
SPIN-code: 2260-1969

MD, Cand. Sci. (Medicine)

Russian Federation, Saint Petersburg; Saint Petersburg

Ekaterina A. Panyutina

Saint Petersburg Branch of the Fedorov Eye Microsurgery Complex

Email: alshilov1995@mail.ru
SPIN-code: 3814-0967

MD, Ophthalmologist

Russian Federation, Saint Petersburg

Natalia A. Malinovskaya

North-Western State Medical University named after I.I. Mechnikov

Email: benimor100@mail.ru
ORCID iD: 0000-0002-4560-6239
SPIN-code: 8306-9359

MD, Cand. Sci. (Medicine)

Russian Federation, Saint Petersburg

Alexander I. Shilov

Saint Petersburg Branch of the Fedorov Eye Microsurgery Complex

Author for correspondence.
Email: alshilov1995@mail.ru
ORCID iD: 0000-0003-3315-3057
SPIN-code: 9941-5834

MD, Ophthalmologist

Russian Federation, Saint Petersburg

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2. Fig. 1. Fundus of a sialidosis patient with «a cherry-red spot»: а — right eye, b — left eye

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3. Fig. 2. Macular optical coherence tomography images of a sialidosis patient, hyper-reflectivity of the ganglion cell layer due to accumulation of sialyloligosaccharides: а — right eye, b — left eye

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4. Fig. 3. Macular optical coherence tomography angiography images of a sialidosis patient, no circulatory compromise: а — right eye, b — left eye

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5. Fig. 4. Microperimetry in a sialidosis patient, central scotomas: а — right eye, b — left eye

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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
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