Acquired myelinated nerve fibers in association with optic disk drusen

Duval, Renaud; Hammamji, Karim; Aroichane, Maryam; Michaud, Jacques L.; Ospina, Luis H.

doi:10.1016/j.jaapos.2010.08.008

Cited by 19 publications

(7 citation statements)

References 10 publications

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“…Myelin fibers are congenital abnormalities of the papilla [3], they are rare conditions. Straatsma [4] noted an incidence of 0.98% on 4000 autopsies.…”

Section: Discussionmentioning

confidence: 99%

Right Unilateral Myelin Fiber

Seydou¹,

C²,

Kolé³

et al. 2020

Act Sci Oph

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Introduction: Myelin fibers correspond to the abnormal presence of myelin around the retinal optic fibers. Clinical Observation: It was a 22-year-old patient who presented with an examination of the fundus at the level of the right eye an extensive whitish cupboard, papillary, peri-papillary, scalloped plan hiding the retinal vessels. Discussion: Myelin fibers are congenital abnormalities of the papilla. The papillary, peri-papillary and distance localization of the papilla found in our study has been noted in the literature. Myopia occurs during extensive myelin fibers as in our patient. Conclusion: Myelin fibers are rare, asymptomatic, benign affections, discovered incidentally during an eye examination, the diagnosis is essentially clinical.

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“…Myelin fibers are congenital abnormalities of the papilla [3], they are rare conditions. Straatsma [4] noted an incidence of 0.98% on 4000 autopsies.…”

Section: Discussionmentioning

confidence: 99%

Right Unilateral Myelin Fiber

Seydou¹,

C²,

Kolé³

et al. 2020

Act Sci Oph

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“…(Duval et al. ) Retinal abnormalities include prepapillary gliosis, tortuous retinal vessels, foveal irregular pigmentation (Chuah et al. ) and macular dystrophy (Lindfield et al.…”

Section: Discussionmentioning

confidence: 99%

The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

Diab

AlTalbishi

Rosin

et al. 2019

Acta Ophthalmologica

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“…However, intraretinal portions of RGC axons are myelinated abnormally in 1% of the human population. 21,29,30 Abnormal myelination leads to a decrease in visual acuity, an increased incidence of degeneration in myelinated nerves, and visual field defects. 29,30 Myelinating oligodendrocytes are normally absent from the retina, but can be generated in vitro from RPCs.…”

Section: Molecular Markersmentioning

confidence: 99%

“…21,29,30 Abnormal myelination leads to a decrease in visual acuity, an increased incidence of degeneration in myelinated nerves, and visual field defects. 29,30 Myelinating oligodendrocytes are normally absent from the retina, but can be generated in vitro from RPCs. 21 It should be noted, however, that myelinating oligodendrocytes were generated from RPCs after growth in medium containing Fgf2, PDGF and forskolin, 21 a protocol not followed in the current study.…”

Section: Molecular Markersmentioning

confidence: 99%

Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy

et al. 2014

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Primary mitochondrial disorders occur at a prevalence of one in 10 000; B50% of these demonstrate ocular pathology. Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial disorder. LHON results from retinal ganglion cell pathology, which leads to optic nerve degeneration and blindness. Over 95% of cases result from one of the three common mutations in mitochondrial genes MTND1, MTND4 and MTND6, which encode elements of the complex I respiratory chain. Various therapies for LHON are in development, for example, intravitreal injection of adeno-associated virus carrying either the yeast NDI1 gene or a specific subunit of mammalian Complex I have shown visual improvement in animal models. Given the course of LHON, it is likely that in many cases prompt administration may be necessary before widespread cell death. An alternative approach for therapy may be the use of stem cells to protect visual function; this has been evaluated by us in a rotenone-induced model of LHON. Freshly dissected embryonic retinal cells do not integrate into the ganglion cell layer (GCL), unlike similarly obtained photoreceptor precursors. However, cultured retinal progenitor cells can integrate in close proximity to the GCL, and act to preserve retinal function as assessed by manganese-enhanced magnetic resonance imaging, optokinetic responses and ganglion cell counts. Cell therapies for LHON therefore represent a promising therapeutic approach, and may be of particular utility in treating more advanced disease. INTRODUCTIONPrimary mitochondrial disorders (those caused by mutations in the mitochondrial genome) occur at a prevalence of B1 in 10 000, with 1 in 200 individuals carrying at-risk mutations. 1 Approximately 50% demonstrate some form of ocular pathology. 2 Mitochondria provide energy in the form of ATP generated by oxidative phosphorylation; therefore, mitochondrial mutations primarily affect tissues with the greatest energy requirements, such as the retina, the inner ear, central and peripheral nervous systems and cardiac and skeletal muscle. 2,3 Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial disorder, with a prevalence of B1 in 31 000-50 000 in northern Europe. The prevalence of at-risk carriers is much higher, estimated at 1 in 8 500 in the UK; furthermore, primary LHON mutations were found in 1 out of 350 neonatal umbilical cord samples. 1,4 LHON is maternally inherited, often results from homoplasmy of the causative mitochondrial mutation, and is incompletely penetrant; visual loss occurs in 50% of males and 10% of females. Symptoms result from retinal ganglion cell (RGC) pathology, which leads to RGC death via apoptosis, resulting in optic nerve degeneration and subsequent blindness. Nonocular symptoms of mitochondrial dysfunction may also be present. 1,4 Although many mutations implicated in LHON have been described, 90-95% of the cases result from one of the three common mutations in mitochondrial genes including MTND1, MTND4 and MTND6, which encode elements of ...

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Acquired myelinated nerve fibers in association with optic disk drusen

Cited by 19 publications

References 10 publications

Right Unilateral Myelin Fiber

Right Unilateral Myelin Fiber

The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy

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