ArticleJournal of inherited metabolic disease2013
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.
Article in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Investigative ophthalmology & visual science · 2025Article
- Article
- Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.Journal of musculoskeletal & neuronal interactions · 2024Article
- AInternational journal of molecular sciences · 2022Article
- An unusual inherited electroretinogram feature with an exaggerated negative component in dogs.Veterinary ophthalmology · 2022Article
- Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 DeficiencyJournal of clinical research in pediatric endocrinology · 2022Article
- Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia.Frontiers in medicine · 2022Article
- Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.Eye (London, England) · 2021Review
- Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation.iScience · 2020Article
- Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years.GMS ophthalmology cases · 2019Article
- Congenital disorders of glycosylation.Annals of translational medicine · 2018Review
- Recognizable phenotypes in CDG.Journal of inherited metabolic disease · 2018Review
- A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Human molecular genetics · 2016Article
- Ophthalmic findings in an infant with phosphomannomutase deficiency.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Eye involvement in inherited metabolic disorders.Therapeutic advances in ophthalmologyReview
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor function, but profound deficits of the 'on-pathway' in the retina. This localises the site of early, or initial, retinal dysfunction in PMM2-CDG to the synapse in the outer plexiform layer between bipolar cells, photoreceptors and horizontal cells. We sought wider evidence to support this novel finding by reviewing retrospectively the case notes of eight patients, diagnosed with PMM2-CDG between the ages of 7 months to 16 years. We compared the clinical presentation and electroretinograms, (ERGs), of these patients with the sibling pair. We found that five of eight patients showed characteristic ERG features of on-pathway dysfunction in the form of reduced ERG b-wave amplitude. The remaining three patients had significant photoreceptor dysfunction by the time of ERG recording, and both a- and b-wave amplitudes were markedly attenuated. We conclude that ERG signs of on-pathway dysfunction can be detected in the early stages of PMM2-CDG. Referral for electroretinography evidence of this specific on-pathway deficit, with preservation of oscillatory potentials, can help establish the diagnosis of infants with developmental delay or failure to thrive in whom a glycosylation defect is suspected. Also by increasing our understanding of the interaction of N-glycoproteins at this synapse we may be able to design future therapeutic intervention to prevent or ameliorate the progressive visual loss associated with PMM2-CDG.
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