ReviewClinical ophthalmology (Auckland, N.Z.)2015
Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses.
Review in Clinical ophthalmology (Auckland, N.Z.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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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.
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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.
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Who cites it
36 citing papers in PubMed, 73 citations in OpenAlex.
- [Anterior segment changes in mucopolysaccharidoses].Die Ophthalmologie · 2026Article
- Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye.Molecular genetics and metabolism reports · 2026Article
- Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group.Orphanet journal of rare diseases · 2026Article
- "Mucopolysaccharidosis syndrome in a 9-Year-old boy: oral-dental management and diagnostic considerations": a case report.BMC oral health · 2024Article
- Successful treatment of corneal hypertrophic scar in Hurler syndrome.Clinical case reports · 2024Article
- Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.Journal of clinical medicine · 2024Review
- Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice.Molecular pharmaceutics · 2023Article
- Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I.Journal of inherited metabolic disease · 2023Article
- Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know.Diagnostics (Basel, Switzerland) · 2022Review
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Corneal Cloudiness: A Presenting Feature of Mucopolysaccharidosis Type I.Indian journal of pediatrics · 2022Article
- Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.Genes · 2021Review
- Management of Corneal Clouding in Patients with Mucopolysaccharidosis.Journal of clinical medicine · 2021Review
- Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity.Scientific reports · 2021Article
- Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies.Case reports in ophthalmological medicine · 2021Article
- New correlations between ocular parameters and disease severity in Spanish patients with Gaucher's disease Type I.PloS one · 2021Observational
- Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.International journal of neonatal screening · 2020Article
- Ocular Tolerability and Immune Response to Corneal Intrastromal AAV-Molecular therapy. Methods & clinical development · 2020Article
- Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts.Analytical chemistry · 2020Article
- Intrastromal Gene Therapy Prevents and Reverses Advanced Corneal Clouding in a Canine Model of Mucopolysaccharidosis I.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by inborn errors of glycosaminoglycan (GAG) metabolism. These diseases are classified by enzyme deficiency into seven groups: type I, II, III, IV, VI, VII, and IX. GAG accumulation leads to characteristic clinical features. Some ophthalmic findings that are characteristic of MPS diseases include corneal clouding, retinal degeneration, decreased electroretinogram wave amplitude, optic atrophy, papilledema, and glaucoma. Current treatments such as hematopoietic stem cell transplantation and enzyme replacement therapy have increased the life span of many MPS patients and created the need to improve management of ocular symptoms. This article aims to provide a comprehensive review of ocular manifestations and treatment options for the various types of MPS.
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Registered trials
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.