Evidence map›Paper›PMID 30848093›Full record

ArticleMolecular genetics & genomic medicine2019

Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses.

Hsiang-Yu Lin, Wei-Chun Chan, Lee-Jen Chen, Yuan-Chieh Lee, Shu-I Yeh, Dau-Ming Niu, Pao Chin Chiu, Wen-Hui Tsai, Wuh-Liang Hwu, Chih-Kuang Chuang and 1 more

Abstract read
In one paragraph

Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

  1. Article
  2. Retinal microstructual and microvascular changes in mucopolysaccharidoses.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Article
  3. The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025
    Review
  4. Review
  5. Article
  6. Review
  7. Article
  8. Review
  9. Glaucoma in mucopolysaccharidoses.Orphanet journal of rare diseases · 2021
    Review
  10. Review
  11. Review
  12. Article
  13. Article
  14. Fundoscopic Changes in Maroteaux-Lamy Syndrome.Case reports in ophthalmological medicine · 2019
    Article
  15. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Hsiang-Yu LinDepartment of Medicine, Mackay Medical College, New Taipei City, Taiwan.ORCID 0000-0002-9619-0990
Wei-Chun ChanDepartment of Ophthalmology, Mackay Memorial Hospital, Taipei, Taiwan.
Lee-Jen ChenDepartment of Ophthalmology, Mackay Memorial Hospital, Taipei, Taiwan.
Yuan-Chieh LeeDepartment of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
Shu-I YehDepartment of Ophthalmology, Mackay Memorial Hospital, Taipei, Taiwan.
Dau-Ming NiuDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Pao Chin ChiuDepartment of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
Wen-Hui TsaiDepartment of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan.
Wuh-Liang HwuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Chih-Kuang ChuangDepartment of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
Shuan-Pei LinDepartment of Medicine, Mackay Medical College, New Taipei City, Taiwan.

Funding

Mackay Memorial Hospital MMH-101-111Mackay Memorial Hospital MMH-103-092Mackay Memorial Hospital MMH-107-82Mackay Memorial Hospital MMH-E-108-16Ministry of Science and Technology MOST-105-2314-B-195-013Ministry of Science and Technology MOST-105-2628-B-195-001-MY3Ministry of Science and Technology MOST-106-2314-B-195-015-MY2
6 · The paper itself

Abstract

backgroundMucopolysaccharidoses (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.

methodsWe 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).

resultsAmong 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).

conclusionsOcular 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.

Indexed as

AdolescentAdultChildChild, PreschoolFemaleHumansInfantMaleMucopolysaccharidosesPhenotypeTaiwancorneal opacityhyperopiamucopolysaccharidosisocular hypertensionvisual acuity

Identifiers

PMID30848093
PMCPMC6503066

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.