A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms

Kondo, Hiroyuki; Saito, Kayoko; Urano, Mari; Sagara, Yukiko; Uchio, Eiichi; Kondo, Mineo

doi:10.1007/s10384-010-0875-0

Cited by 4 publications

(6 citation statements)

References 4 publications

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“…Ocular abnormalities at the age of 16 were limited to strabismus . Microphthalmia can be the first clinical sign and is associated with poor prognosis. It is also the most frequently reported eye manifestation .…”

Section: Ocular Involvement In O‐glycosylation Disordersmentioning

confidence: 99%

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Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Francisco

Pascoal

Marques‐da‐Silva

et al. 2019

J of Inher Metab Disea

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Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% of these CDG. The ophthalmic manifestations in N-glycosylation-deficient patients have been described elsewhere. The present review documents the spectrum and incidence of eye disorders in patients with pure O-glycosylation defects with the aim of assisting diagnosis and management and promoting research.

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Section: Ocular Involvement In O‐glycosylation Disordersmentioning

confidence: 99%

“…It is also the most frequently reported eye manifestation. 55,61,[65][66][67]69 Overall ocular manifestations are described in Table 1.…”

Section: Fktn-cdgmentioning

confidence: 99%

Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Francisco

Pascoal

Marques‐da‐Silva

et al. 2019

J of Inher Metab Disea

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“…In FCMD, both anterior and posterior components of the eye can be affected. Clinical symptoms include myopia, strabismus, and nystagmus [30][31][32]. Cataract, atrophy of the optic nerve, and retinal detachment are also known.…”

Section: Ocular Lesions Of Fcmd 31 Clinical Observationsmentioning

confidence: 99%

“…Severe cases may show microphthalmia [31]. Electroretinogram (ERG) of FCMD patients may be normal, but abnormal findings may be seen in both dark-adapted and lightadapted ERGs [32]. Patients of WWS and MEB, severe forms of α-dystroglycanopathy, also exhibit abnormalities in anterior and posterior components.…”

Section: Ocular Lesions Of Fcmd 31 Clinical Observationsmentioning

confidence: 99%

Ocular Pathology of Fukuyama Congenital Muscular Dystrophy

Yamamoto¹,

Kato²,

Shibata³

2019

Muscular Dystrophies

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Fukuyama congenital muscular dystrophy (FCMD) is one of the congenital muscular dystrophies, showing central nervous system (CNS) and ocular lesions, in addition to muscular dystrophy. It is included in α-dystroglycanopathy, an entity of muscular dystrophies caused by reduced glycosylation of α-dystroglycan (α-DG). Studies of ocular lesions are not so many, compared with those of the muscle and CNS. Clinical ocular manifestations are myopia, strabismus, retinal detachment, and so on. Since the retina has a structure partly resembling the cerebral cortex, pathological findings similar to those found in the brain have been reported. The major observation considered to be involved in the pathogenesis of retinal lesions is abnormalities in the internal limiting membrane formed by Müller cells, which is corresponding to the glia limitans formed by astrocytes in the brain. Fukutin, responsible for FCMD, and α-DG are expressed in Müller cells. Moreover, fukutin may be involved in synaptic functions of retinal neurons through the glycosylation of α-DG. In this chapter, ocular lesions of fetal and child FCMD patients are presented, especially focusing on pathological findings of the retina, and functions of fukutin are discussed.

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“…A related group of diseases collectively known as dystroglycanopathies are associated with mutations in genes responsible for glycosylation of dystroglycan ( POMT1, POMT2, POMGnT1, fukutin, FKRP , and LARGE ). Although ocular phenotypes and ERGs for patients with mutations in these genes are rarely reported (Gerding et al 1993, Kondo et al 2010), modeling loss of dystroglycan or its glycosylation in mouse models causes characteristic b-wave deficits (Lee et al 2005, Liu et al 2006, Omori et al 2012). Given the role of DGC in the organization of photoreceptor synapses (described above), dysfunction in ON-BC signaling likely contributes to the symptomatic manifestations of many forms of muscular dystrophies and dystroglycanopathies.…”

Section: Deficits In On-bc Signaling At the Nexus Of Human Visual Dismentioning

confidence: 99%

The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease

Martemyanov

Sampath

2017

Annu. Rev. Vis. Sci.

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Our robust visual experience is based on the reliable transfer of information from our photoreceptor cells, the rods and cones, to higher brain centers. At the very first synapse of the visual system information is split into two separate pathways, ON and OFF, which encode increments and decrements in light intensity, respectively. The importance of this segregation is borne out in the fact that receptive fields in higher visual centers maintain a separation between ON and OFF regions. In the past decade the molecular mechanisms underlying the generation of ON signals have been identified, which is unique in its use of a G protein signaling cascade. In this review we consider advances in our understanding of G protein signaling in ON bipolar cell dendrites, and how insights about signaling have emerged from visual deficits, mostly night blindness. Studies of G protein signaling in ON-BCs reveal an intricate mechanism that permits the regulation of visual sensitivity over a wide dynamic range.

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A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms

Cited by 4 publications

References 4 publications

Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Ocular Pathology of Fukuyama Congenital Muscular Dystrophy

The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease

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