Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses.
corneal opacity
hyperopia
mucopolysaccharidosis
ocular hypertension
visual acuity
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
19
11
2018
revised:
12
01
2019
accepted:
10
02
2019
pubmed:
9
3
2019
medline:
27
6
2019
entrez:
9
3
2019
Statut:
ppublish
Résumé
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. 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). 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). 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.
Sections du résumé
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.
Identifiants
pubmed: 30848093
doi: 10.1002/mgg3.617
pmc: PMC6503066
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e00617Subventions
Organisme : Ministry of Science and Technology
ID : MOST-106-2314-B-195-015-MY2
Pays : International
Organisme : Ministry of Science and Technology
ID : MOST-105-2628-B-195-001-MY3
Pays : International
Organisme : Ministry of Science and Technology
ID : MOST-105-2314-B-195-013
Pays : International
Organisme : Mackay Memorial Hospital
ID : MMH-E-108-16
Pays : International
Organisme : Mackay Memorial Hospital
ID : MMH-101-111
Pays : International
Organisme : Mackay Memorial Hospital
ID : MMH-103-092
Pays : International
Organisme : Mackay Memorial Hospital
ID : MMH-107-82
Pays : International
Informations de copyright
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
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