Ocular Findings in Metachromatic Leukodystrophy

Libert, Jacques; Hoof, F. Van; Toussaint, D; Roozitalab, Hussein; Kenyon, Kenneth R.; Green, W. Richard

doi:10.1001/archopht.1979.01020020157015

Cited by 21 publications

(3 citation statements)

References 25 publications

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“…The first included case occurred in 1921,reported by Witte et al3. Ninety-eight patients of the late infantile subtype from 50 studies4–53, 78 patients of the juvenile subtype from 42 studies22, 24, 26, 27, 30, 49, 50, 54–88, and 127 patients of the adult onset subtype from 69 studies3, 7, 14, 22, 27, 30, 81–144 were identified and are summarized in Table 1.…”

Section: Resultsmentioning

confidence: 99%

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature

et al. 2009

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Metachromatic Leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified all human studies that reported new cases since 1921. We analyzed survival by decade to assess the impact of historical changes in management of care. Mean age at death and 5-year survival from onset of symptoms for late infantile, juvenile and adult phenotype were 4.2 years and 24.9%, 17.4 years and 70.3%, and 43.1 years and 88.6% respectively. 5-year survival of cases reported after 1990 was significantly better than cases reported before 1970 in all subtypes of metachromatic leukodystrophy (late infantile: 52% vs. 14%, juvenile: 100% vs. 46%, adult: 95% vs. 67%). Survival in the late infantile subtype was worse than in other subtypes. Survival significantly improved over time in all subtypes.

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Section: Resultsmentioning

confidence: 99%

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature

et al. 2009

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“…Deficiency of arylsulfatase A underlies the lysosomal storage disease metachromatic leukodystrophy manifested by myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve (Libert et al, 1979), and lipid accumulation in retinal ganglion cells (Libert et al, 1979) accompanied by retinal pigment epithelial degeneration (Weiter et al, 1980). Rescue has been successful in metachromatic leukodystrophic mice by systemic injection of normal ARSA cloned into an adenovirus vector (Miyake et al, 2014), and appears to be safe as an approach in humans (Zerah et al, 2015).…”

Section: Other Autophagy ‘Eye Disease Genes’ Of the Ocular Surfacementioning

confidence: 99%

Lacritin and other autophagy associated proteins in ocular surface health

Karnati

Talla²,

Peterson³

et al. 2016

Experimental Eye Research

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Advantage may be taken of macroautophagy (‘autophagy’) to promote ocular health. Autophagy continually captures aged or damaged cellular material for lysosomal degradation and recyling. When autophagic flux is chronically elevated, or alternatively deficient, health suffers. Chronic elevation of flux and stress are the consequence of inflammatory cytokines or of dry eye tears but not normal tears in vitro. Exogenous tear protein lacritin transiently accelerates flux to restore homeostasis in vitro and corneal health in vivo, and yet the monomeric active form of lacritin appears to be selectively deficient in dry eye. Tissue transglutaminase-dependent cross-linking of monomer decreases monomer quantity and monomer affinity for coreceptor syndecan-1 thereby abrogating activity. Tissue transglutaminase is elevated in dry eye. Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosisneuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of ‘ceroid-lipofuscin’ in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration. For some, enzyme or gene replacement, or substrate reduction, therapy is proving to be successful. Here we discuss examples of restoring ocular surface homeostasis through alteration of autophagy, with particular attention to lacritin.

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“…A certain degree of optic nerve involvement is reported in MLD. It is probably due to the accumulation of metachromatic deposits in the retinal ganglionic cells, and optic and ciliary nerves resulting in optic nerve atrophy and blindness, later as the disease progresses [15] . Besides this, other ocular manifestations include skew deviation, retinal degeneration, and cherry red spots.…”

Section: Clinical Discussionmentioning

confidence: 99%

Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report

Katwal,

Suwal,

Lamichhane

et al. 2023

Radiology Case Reports

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Ocular Findings in Metachromatic Leukodystrophy

Cited by 21 publications

References 25 publications

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature

Lacritin and other autophagy associated proteins in ocular surface health

Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report

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