The Natural History of Retinal Degeneration in Association with Cobalamin C (cbl C) Disease

Schimel, Andrew M.; Mets, Marilyn B.

doi:10.1080/13816810500481758

Cited by 29 publications

(23 citation statements)

References 9 publications

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“…[5][6][7][8][9][10][11][12][13][14][15][16][17] None of these reports provides longitudinal data of patients with genetically identified cblC. Here, we present detailed ocular function data over a relatively long follow-up period of patients with cblC and identified mutation in the MMACHC gene.…”

mentioning

confidence: 81%

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

Gerth¹,

Morel²,

Feigenbaum³

et al. 2008

Journal of American Association for Pediatric Ophthalmology and

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mentioning

confidence: 81%

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

Gerth¹,

Morel²,

Feigenbaum³

et al. 2008

Journal of American Association for Pediatric Ophthalmology and

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“…Patients may also develop progressive retinal disease, ranging from subtle retinal nerve fiber layer loss to advanced macular and optic atrophy with salt and pepper pigmentation (Robb et al 1984;Mitchell et al 1986;Traboulsi et al 1992;Gerth et al 2008). ERG studies indicate that early in life the photopic and scotopic responses follow the lower limits of a normal developmental curve, progressing to attenuated or nonrecordable ERGs, confirming retinal degeneration (Schimel and Mets 2006).…”

Section: Early-onset Formmentioning

confidence: 96%

Cobalamin C defect: natural history, pathophysiology, and treatment

Martinelli

Deodato

Dionisi‐Vici

2010

J of Inher Metab Disea

126

142

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Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The gene responsible for the Cbl-C defect has been recently identified, and more than 40 mutations have been reported. MMACHC gene is located on chromosome 1p and catalyzes the reductive decyanation of CNCbl. Cbl-C patients present with a heterogeneous clinical picture and, based on their age at onset, can be categorized into two distinct clinical forms. Early-onset patients, presenting symptoms within the first year, show a multisystem disease with severe neurological, ocular, haematological, renal, gastrointestinal, cardiac, and pulmonary manifestations. Late-onset patients present a milder clinical phenotype with acute or slowly progressive neurological symptoms and behavioral disturbances. To improve clinical course and metabolic abnormalities, treatment of Cbl-C defect usually consists of a combined approach that utilizes vitamin B12 to increase intracellular cobalamin and to maximize deficient enzyme activities, betaine to provide a substrate for the conversion of homocysteine into methionine through betaine-homocysteine methyltransferase, and folic acid to enhance remethylation pathway. No proven efficacy has been demonstrated for carnitine and dietary protein restriction. Despite these measures, the long-term follow-up is unsatisfactory especially in patients with early onset, with frequent progression of neurological and ocular impairment. The unfavorable outcome suggests that better understanding of the pathophysiology of the disease is needed to improve treatment protocols and to develop new therapeutic approaches.

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“…A total of 22 cases have been reported in the literature of ocular findings of the disease. 3,[6][7][8][9][10][11] The purpose of this study is to report the largest series of patients with ocular abnormalities due to cblC.…”

mentioning

confidence: 99%

Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria

Fuchs

Robert

Ingster-Moati

et al. 2012

Journal of American Association for Pediatric Ophthalmology and

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The Natural History of Retinal Degeneration in Association with Cobalamin C (cbl C) Disease

Abstract: Cobalamin C disease results in progressive retinal degeneration with its onset in the first few months of life and progressing rapidly over the first few years of life.

Cited by 29 publications

References 9 publications

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

Cobalamin C defect: natural history, pathophysiology, and treatment

Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria

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