A case of Hunter syndrome with bilateral retinal detachment

Ivanova, Tsveta; Jalil, Assad; Vallejo-Garcia, Jose Luis; Patton, Niall

doi:10.1038/eye.2014.202

Cited by 1 publication

(2 citation statements)

References 4 publications

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“…Vision loss is a significant complication associated with MPSs − and has a negative impact on the independence and quality-of-life of patients. Although corneal clouding is the most frequently observed ocular problem in MPSs, it is not as common in MPS II. − In contrast, a considerable proportion of patients with MPS II develops retinopathy, probably due to GAG deposition in the RPE and interphotoreceptor matrix, which can lead to progressive loss of photoreceptor layers. − Optical coherence tomography analysis has demonstrated retinal degeneration in MPS II. ,− Our murine model of MPS II (hTfR-KI/ Ids -KO) recapitulated eye defects, including retinal degeneration (cell loss) and decreased ERG responses, mirroring those observed in patients with MPS II. , …”

Section: Discussionmentioning

confidence: 99%

“… 42 − 44 In contrast, a considerable proportion of patients with MPS II develops retinopathy, probably due to GAG deposition in the RPE and interphotoreceptor matrix, which can lead to progressive loss of photoreceptor layers. 44 − 46 Optical coherence tomography analysis has demonstrated retinal degeneration in MPS II. 45 , 47 − 49 Our murine model of MPS II (hTfR-KI/ Ids -KO) recapitulated eye defects, including retinal degeneration (cell loss) and decreased ERG responses, mirroring those observed in patients with MPS II.…”

Section: Discussionmentioning

confidence: 99%

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Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice

Imakiire,

Morimoto,

Suzuki

et al. 2023

Mol. Pharmaceutics

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Mucopolysaccharidoses (MPSs) make up a group of lysosomal storage diseases characterized by the aberrant accumulation of glycosaminoglycans throughout the body. Patients with MPSs display various signs and symptoms, such as retinopathy, which is also observed in patients with MPS II. Unfortunately, retinal disorders in MPS II are resistant to conventional intravenous enzyme-replacement therapy because the blood-retinal barrier (BRB) impedes drug penetration. In this study, we show that a fusion protein, designated pabinafusp alfa, consisting of an antihuman transferrin receptor antibody and iduronate-2-sulfatase (IDS), crosses the BRB and reaches the retina in a murine model of MPS II. We found that retinal function, as assessed by electroretinography (ERG) in MPS II mice, deteriorated with age. Early intervention with repeated intravenous treatment of pabinafusp alfa decreased heparan sulfate deposition in the retina, optic nerve, and visual cortex, thus preserving or even improving the ERG response in MPS II mice. Histological analysis further revealed that pabinafusp alfa mitigated the loss of the photoreceptor layer observed in diseased mice. In contrast, recombinant nonfused IDS failed to reach the retina and hardly affected the retinal disease. These results support the hypothesis that transferrin receptor-targeted IDS can penetrate the BRB, thereby ameliorating retinal dysfunction in MPS II.

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