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Mol Genet Genomic Med. 2019 May;7(5):e00617. doi: 10.1002/mgg3.617. Epub 2019 Mar 8.

Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses.

Lin HY1,2,3,4,5,6, Chan WC7, Chen LJ7, Lee YC8, Yeh SI7, Niu DM9, Chiu PC10, Tsai WH11, Hwu WL12, Chuang CK3,13, Lin SP1,2,3,14.

Author information

1
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
2
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
3
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
4
Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
5
Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan.
6
Institute of Biomedical Sciences, Mackay Medical College, New Taipei City, Taiwan.
7
Department of Ophthalmology, Mackay Memorial Hospital, Taipei, Taiwan.
8
Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
9
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
10
Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
11
Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan.
12
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
13
College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan.
14
Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.

Abstract

BACKGROUND:

Mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in various tissues and organs. Ocular problems that affect the cornea, trabecular meshwork, sclera, retina, and optic nerve are very common in these patients. However, there was limited literature focusing on comprehensive ocular findings in different types of MPS.

METHODS:

We retrospectively reviewed the clinical ophthalmologic features and electrodiagnostic results of 50 Taiwanese patients with a diagnosis of MPS (34 males and 16 females; age range, 1.1-34.9 years; nine with MPS I, 17 with MPS II, 17 with MPS IV, and seven with MPS VI).

RESULTS:

Among 44 patients with available data for visual acuity, 15 patients (34%) had a visual acuity of less than 0.5 (6/12) equivalent in their better eye, including 71% of those with MPS VI, 38% with MPS IV, 29% with MPS I, and 14% with MPS II. Severe corneal opacities existed in 57% of MPS VI patients and 11% of MPS I patients, compared with none for MPS II and MPS IV patients. Among 80 eyes with available data of refraction, 11 eyes (14%) had myopia (≦-0.50 D), 55 eyes (69%) had hyperopia (≧0.50 D), and 55 eyes (69%) had high astigmatism (≧1.50 D). Ocular hypertension was found in 45% (28/62) of eyes. There were 16% (14/90), 11% (10/90), 13% (12/90), 31% (27/86), and 79% (30/38) of MPS eyes with lens opacities, optic disc swelling, optic disc cupped, retinopathy, and visual pathway dysfunction, respectively. Intraocular pressure was positively correlated with the severity of corneal opacity (p < 0.01).

CONCLUSIONS:

Ocular complications with significant reduction in visual acuity are common in MPS patients. Diagnostic problems may arise in these patients with severe corneal opacification, especially for those with MPS VI and MPS I.

KEYWORDS:

corneal opacity; hyperopia; mucopolysaccharidosis; ocular hypertension; visual acuity

PMID:
30848093
PMCID:
PMC6503066
DOI:
10.1002/mgg3.617
[Indexed for MEDLINE]
Free PMC Article

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