Corneal Endothelium in Mucopolysaccharide Storage Disorders

Mollard, R. Jennifer; Telegan, Patti; Haskins, Mark E.; Aguirre, Gustavo D.

doi:10.1097/00003226-199601000-00006

Cited by 27 publications

(27 citation statements)

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“…Our results were consistent with previously published data that characterized this compartment (Chan et al, 1983 ;Del Monte et al, 1983 ;Lavery et al, 1983 ;Mollard et al, 1996 ;Spencer, 1996). Electron micrographs revealed the presence of small to moderately sized secondary lysosomes in the corneal epithelium from human MPS I and III, as well as cats with MPS I and VI.…”

Section: Resultssupporting

confidence: 94%

“…In this respect, the abnormal accumulation of substrate within lysosomes in storage diseases might indicate a compromised endothelial function that may be involved in the alteration of stromal structure. However, in feline MPS VI, there was no abnormal storage within the corneal endothelium (Mollard et al, 1996), and the cat corneas are cloudy. Furthermore, the endothelial and lysosomal compartments were comparable in human MPS I and III where corneas are cloudy and clear, respectively.…”

Section: Discussionmentioning

confidence: 90%

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Altered Corneal Stromal Matrix Organization is Associated with Mucopolysaccharidosis I, III and VI

Alroy

Haskins

Birk

1999

Experimental Eye Research

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Section: Resultssupporting

confidence: 94%

Section: Discussionmentioning

confidence: 90%

Altered Corneal Stromal Matrix Organization is Associated with Mucopolysaccharidosis I, III and VI

Alroy

Haskins

Birk

1999

Experimental Eye Research

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“…Corneal clouding involving all layers (epithelium, stroma and endothelium) (Gills et al 1965;Mollard et al 1996;Alroy et al 1999), ocular hypertension or glaucoma with glaucomatous optic nerve heads (Spellacy et al 1980;Nowaczyk et al 1988;Mullaney et al 1996;Guffon et al 1998) and chronic papilloedema with subsequent optic atrophy (Collins et al 1990;Gullingsrud et al 1998;Wraith 2005) are found in patients with MPS I-Hurler. Reduced corneal opacities after SCT have been reported but outcomes vary (Hobbs et al 1981;Summers et al 1989;Vellodi et al 1997;Guffon et al 1998;Gullingsrud et al 1998;Souillet et al 2003;Connell et al 2008).…”

mentioning

confidence: 99%

Corneal hysteresis in mucopolysaccharidosis I and VI

Fahnehjelm¹,

Chen²,

Winiarski³

2011

Acta Ophthalmologica

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Abstract.Purpose: High intraocular pressure (IOP) and glaucoma are often suspected in patients with mucopolysaccharidosis (MPS). To determine corneal hysteresis (CH) and IOP in children with mucopolysaccharidosis I‐Hurler (MPS I‐H) and MPS VI.Methods: Clinical measurements with ocular response analyzer (ORA).Results: In seven patients, five with MPS I‐H treated with stem cell transplantation (SCT), and two with MPS VI, one treated with SCT and the other with enzyme therapy, the IOP was examined with ORA. Ocular response analyzer measurements were made at a median age of 8.7 years in the patients with MPS I‐H and at a median age of 9.3 years in the patients with MPS VI. Earlier measurements had raised suspicion of high IOP in one patient. The ORA showed an increased CH and a falsely high IOP values in all 14 eyes. The recalculated IOPs were normal in all 14 eyes. Mild to severe corneal opacities were present in all 14 eyes. Optic disc areas, borders and cupping were clinically normal in the 12 of 14 eyes that were possible to examine. Severe corneal opacities hampered optic disc evaluation in the older patient with MPS VI. Three eyes in two patients had normal thickness of the retinal nerve fibre layer measured with scanning laser polarimetry with corneal compensation (GDx VCC). No patient was diagnosed or treated for glaucoma.Conclusion: The IOPs are often falsely high because of an increased resistance of the cornea and correlate to the extent of corneal clouding. In this small, cross‐sectional study, it appears that corneal resistance is directly correlated with corneal clouding, although a longitudinal study that evaluates resistance as the cornea clears with treatment would provide more direct evidence that corneal deposits are directly related to resistance. A correct measured IOP can avoid unnecessary medical or surgical hypotensive treatment.

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“…Alroy et al, demonstraram que os depósitos corneais geralmente estão associados a anomalias esqueléticas, como é o caso em questão (9) . Os mucopolissacarídeos constituem a substância fundamental da córnea (4 a 4,5% do peso da córnea seca), sendo nestas doenças encontrado um excesso de mucopolissacarí-deos nos ceratócitos e estroma, e, em alguns casos, no epitélio e endotélio corneais (4,10) . Devido à instabilidade em relação à degradação fisiológica destes mucopolissacarídeos, ocorrem várias alterações de significados variáveis no globo ocular podendo levar à perda da transparência corneal difusa (cerca de 75% dos pacientes com MPS tipo VI apresentam opacificação corneal de intensidade variável) como relatam alguns autores (4) apresentando um aspecto de vidro moído associado a opacidades puntiformes finas no estroma profundo.…”

Section: Discussionunclassified