Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses

Jp, Gills; Hobson, Robert R.; Wb, Hanley; Va, McKusick

doi:10.1001/archopht.1965.00970040598003

Cited by 59 publications

(24 citation statements)

References 19 publications

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“…24,29 Retinopathy is known to occur to a variable degree in all MPS I subgroups, MPS II Hunter and moderate or severe retinopathy is a common feature of MPS III Sanfilippo. 16,30,31 Pigmentary retinopathy may also occur in MPS IV Morquio. 32 We have electrodiagnostic evidence of retinopathy in a high proportion (69% of those who had ERGs performed) of MPS I Hurler patients, and clinical retinal pigment epithelial changes suggestive of retinopathy in a significant proportion of MPS IH/S Hurler/Scheie (56%) and MPS IS Scheie patients (66%).…”

Section: Discussionmentioning

confidence: 99%

The ocular features of the mucopolysaccharidoses

Ashworth

Biswas

Wraith

et al. 2005

Eye

128

193

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Aims The mucopolysaccharidoses (MPS) are a heterogeneous group of rare disorders characterised by accumulation of glycosaminoglycans within multiple organ systems. This study aimed to determine the prevalence and severity of ocular complications in patients with MPS. Methods Clinical ophthalmic features and electrodiagnostic results of 50 patients with a diagnosis of MPS were retrospectively reviewed. Results A total of 79% of MPS IH patients had a visual acuity of less than 6/12 equivalent in their better eye, compared to 44% of MPS IH/S and 25% of MPS VI patients. In total, 16% of MPS IH and 25% of MPS IH/S had severe corneal opacification, compared to 38% of MPS VI patients. 16% of MPS IH patients had optic atrophy; 21% of MPS VI patients had mild disc swelling, 29% had markedly swollen discs, and 14% had optic atrophy. One patient with MPS IH, one with MPS IH/S and six with MPS VI had ocular hypertension. One MPS VI patient had glaucoma that required topical therapy. Nine patients with MPS IH had electrodiagnostic evidence of retinopathy, as did one MPS VI patient. Conclusions Ocular complications causing significant reduction in vision are common in MPS. The majority of MPS I and MPS VI patients have corneal opacification, which can lead to difficulties in diagnosis and monitoring of glaucoma, optic disc changes, and retinopathy.

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Section: Discussionmentioning

confidence: 99%

The ocular features of the mucopolysaccharidoses

Ashworth

Biswas

Wraith

et al. 2005

Eye

128

193

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“…(2) A tapetoretinal degeneration (pigmentary retinopathy with optic atrophy and arteriolar narrowing) has been observed in many cases, when the fundus was not obscured by the corneal opacities (Hooper, 1952: Sapuppo, 1953McKusick, 1960;G ills et al, 1965;Paufique et al, 1965;Markakis, 1967;Gollance andD'Amico, 1967: Leung et al, 1971].…”

Section: Ocular Manifestationsmentioning

confidence: 99%

“…Moreover, a subnormal ERG response which may become extinct, is present in nearly all cases [Jayi.e and Fantin, 1963;Paufique et al, 1965;G ills et al, 1965G ills et al, : Leung et al, 1971Goldberg, 1971;Fukunaga et al, 1971). Normal ERGs may.…”

Section: Ocular Manifestationsmentioning

confidence: 99%

Ocular Manifestations of the Mucopolysaccharidoses

François¹

1974

Ophthalmologica

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“…Furthermore, prior to photoreceptor loss in mice affected with mucopolysaccharidosis type VII, an altered distribution of IPM chondroitin 6-sulfate containing proteoglycan has been observed (Lazarus et al, 1993). It is noteworthy that retinal degeneration is also known to occur in humans affected with mucopolysaccharidoses, a heterogeneous group of lysosomal storage diseases caused by a deficiency of one of the key enzymes required for glycosaminoglycan degradation (Gills et al, 1965;Goldberg and Duke, 1967).…”

Section: Introductionmentioning

confidence: 99%

Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies

Felbor

Gehrig²,

Sauer³

et al. 1998

Cytogenet Genome Res

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The interphotoreceptor matrix is a unique extracellular matrix occupying the space between the photoreceptors and the retinal pigment epithelium. Due to its putative function in the maintenance and integrity of the photoreceptor cells, it is conceivable that it is involved in retinal degeneration processes. More recently, a novel gene encoding a 150-kDa interphotoreceptor matrix proteoglycan, designated IMPG1, was cloned and shown to be expressed in both rod and cone photoreceptor cells. To assess this gene in human retinal dystrophies, we have now determined the genomic organization and chro- mosome location of IMPG1. It is composed of 17 exons ranging from 21 to 533 bp, including an alternatively spliced exon 2. Using somatic cell hybrid mapping and FISH analysis, we have assigned the IMPG1 locus to 6q13→q15. As this interval overlaps with the chromosomal loci of several human retinopathies, including autosomal dominant Stargardt-like macular dystrophy (STGD3), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1), IMPG1 represents an attractive candidate for these 6q-linked disorders.

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Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses

Cited by 59 publications

References 19 publications

The ocular features of the mucopolysaccharidoses

The ocular features of the mucopolysaccharidoses

Ocular Manifestations of the Mucopolysaccharidoses

Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies

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