Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance

Weisfeld-Adams, 2010, Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte, Mol. Genet. Metab., 99, 116, 10.1016/j.ymgme.2009.09.008 Kim, 2008, Decyanation of vitamin B12 by a trafficking chaperone, PNAS, 105, 14551, 10.1073/pnas.0805989105 Wen, 2011, General health-related quality of life in preschool children with strabismus or amblyopia, Ophthalmology, 118, 574, 10.1016/j.ophtha.2010.06.039 Gerth, 2008, Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type, J. AAPOS, 12, 591, 10.1016/j.jaapos.2008.06.008 Ben-Omran, 2007, Late-onset cobalamin-C disorder: a challenging diagnosis, Am. J. Med. Genet. A, 143A, 979, 10.1002/ajmg.a.31671 Weisfeld-Adams, 2013, Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type, Mol. Genet. Metab., 110, 241, 10.1016/j.ymgme.2013.07.018 Fischer, 2014, Clinical presentation and outcome in a series of 88 patients with the cblC defect, J. Inherit. Metab. Dis., 37, 831, 10.1007/s10545-014-9687-6 Shinnar, 1984, Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy, N. Engl. J. Med., 311, 451, 10.1056/NEJM198408163110707 Van Hove, 2002, Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy, Am. J. Med. Genet., 111, 195, 10.1002/ajmg.10499 Gizicki, 2014, Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type, Ophthalmology, 121, 381, 10.1016/j.ophtha.2013.08.034 Schimel, 2006, The natural history of retinal degeneration in association with cobalamin C (cbl C) disease, Ophthalmic Genet., 27, 9, 10.1080/13816810500481758 Tsai, 2007, Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbances, Am. J. Med. Genet., 143A, 2430, 10.1002/ajmg.a.31932 Liu, 2014, Clinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentation, J. Neurol. Neurosurg. Psychiatry Huemer, 2014, When to inborn errors of metabolism beyond infancy: three new cases and a review of the literature illustrating the clinical spectrum in the late-onset cblC defect, Orphanet J. Rare Dis., 9, 161, 10.1186/s13023-014-0161-1 Cogan, 1980, Epileptiform ocular movements with methylmalonic aciduria and homocystinuria, Am J. Ophthalmol., 90, 251, 10.1016/S0002-9394(14)74863-9 Mitchell, 1986, Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria, J. Pediatr., 108, 410, 10.1016/S0022-3476(86)80882-4 Brandstetter, 1990, Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (cblC type), Am. J. Med. Genet., 36, 167, 10.1002/ajmg.1320360208 Ticho, 1992, Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria, Ann. Ophthalmol., 24, 180 Geraghty, 1992, Cobalamin C defect associated with hemolytic-uremic syndrome, J. Pediatr., 120, 934, 10.1016/S0022-3476(05)81967-5 Traboulsi, 1992, Ocular histopathologic consequences of cblC type vitamin B12 defect with methylmalonic aciduria and homocystinuria, Am J. Ophthalmol., 113, 269, 10.1016/S0002-9394(14)71578-8 Russo, 1992, A congenital anomaly of B12 metabolism: a study of three cases, Hum. Pathol., 23, 503, 10.1016/0046-8177(92)90127-O Augoustides-Savvopoulou, 1999, Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family, J. Inherit. Metab. Dis., 22, 756, 10.1023/A:1005508620919 Patton, 2000, Optic atrophy in association with cobalamin C (cblC) disease, Ophthalmic Genet., 21, 151, 10.1076/1381-6810(200009)21:3;1-Z;FT151 Kind, 2002, Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period, J. Pediatr. Hematol. Oncol., 24, 327, 10.1097/00043426-200205000-00023 Francis, 2004, An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal hemorrhages and subdural haematoma mimicking non-accidental injury, Eur. J. Pediatr., 163, 420, 10.1007/s00431-004-1440-y Ricci, 2005, Assessment of visual function in children with methylmalonic aciduria and homocystinuria, Neuropediatrics, 36, 181, 10.1055/s-2005-865609 Tsina, 2005, Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria, Arch. Ophthalmol., 123, 1143, 10.1001/archopht.123.8.1143 Sharma, 2007, Hemolytic-uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder, Pediatr. Nephrol., 22, 2097, 10.1007/s00467-007-0604-1 Gaillard, 2008, Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (cblC): a spectrum of disorders, Klin. Monbl. Augenheilkd., 225, 491, 10.1055/s-2008-1027310 Grant, 2009, Maculopathy due to cobalamin C (cblC) disease in an Amish child, J. Pediatr. Ophthalmol. Strabismus Aleman, 2014, Retinal structure in cobalamin C disease: mechanistic and therapeutic implications, Ophthalmic Genet., 10.3109/13816810.2014.885059 Weisfeld-Adams, 2014, Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?, J. Inherit. Metab. Dis. Bodamer, 2001, Adult-onset combined methylmalonic aciduria and homocystinuria (cblC), Neurology, 56, 1113, 10.1212/WNL.56.8.1113 Powers, 2001, Neurological and neuropathological heterogeneity in two brothers with cobalamin C deficiency, Ann. Neurol., 49, 396, 10.1002/ana.78 Brunelli, 2002, Cobalamin C deficiency complicated by an atypical glomerulopathy, Pediatr. Nephrol., 17, 800, 10.1007/s00467-002-0895-1 Roze, 2003, Neuropsychiatric disturbances in presumed late-onset cobalamin C disease, Arch. Neurol., 60, 1457, 10.1001/archneur.60.10.1457 Thauvin-Robinet, 2008, The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum, J. Neurol. Neurosurg. Psychiatry, 79, 725, 10.1136/jnnp.2007.133025 Boxer, 2005, Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment, Neurology, 64, 1431, 10.1212/01.WNL.0000158476.74580.A8 Heil, 2007, Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type), J. Inherit. Metab. Dis., 30, 811, 10.1007/s10545-007-0546-6 Bouts, 2010, CD-46 associated atypical hemolytic-uremic syndrome with uncommon course caused by cblC deficiency, Pediatr. Nephrol., 25, 2547, 10.1007/s00467-010-1609-8 Wang, 2012, A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China, J. Neurol. Sci., 318, 155, 10.1016/j.jns.2012.04.012 Kilic, 2013, T: Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation, Turkish, J. Pediatr., 55, 633 Cornec-Le Gall, 2013, Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency, Am. J. Kidney Dis., 63, 119, 10.1053/j.ajkd.2013.08.031 Backe, 2013, Novel deletion mutation identified in a patient with late-onset combined methylmalonic academia and homocystinuria, cblC type, 10.1007/8904_2013_225 Kömhoff, 2013, Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency, Pediatrics, 132, e540, 10.1542/peds.2012-2581 Gündüz, 2014, Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the cblC gene, Eur. J. Pediatr., 173, 1707, 10.1007/s00431-014-2330-6 Krueger, 2015, A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male, Pediatrics, 135, e202, 10.1542/peds.2013-1427 Lerner-Ellis, 2006, Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type, Nat. Genet., 38, 93, 10.1038/ng1683 Robb, 1984, Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities, Am J. Ophthalmol., 97, 691, 10.1016/0002-9394(84)90499-9 Margolis, 1977, Macular colobomas in Leber's congenital amaurosis, Am J. Ophthalmol., 83, 27, 10.1016/0002-9394(77)90187-8 Fuchs, 2012, Ocular manifestations of cobalamin C type methylmalonic aciduria and homocystinuria, J. AAPOS, 16, 370, 10.1016/j.jaapos.2012.02.019 Huemer, 2005, Prenatal and postnatal treatment in cblC defect, J. Pediatr., 147, 469, 10.1016/j.jpeds.2005.04.040 Enns, 1999, Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin, J. Inherit. Metab. Dis., 22, 599, 10.1023/A:1005517727451 Pinar-Sueiro, 2010, Optic neuropathy in methylmalonic acidemia: the role of neuroprotection, J. Inherit. Metab. Dis., 33, S199, 10.1007/s10545-010-9084-8 Williams, 2009, Late onset optic neuropathy in methylmalonic and propionic acidemia, Am J. Ophthalmol., 147, 929, 10.1016/j.ajo.2008.12.024 Poloschek, 2005, Disturbed visual system function in methionine synthase deficiency, Graefes Arch. Clin. Exp. Ophthalmol., 243, 497, 10.1007/s00417-004-1044-2 Ogier de Baulny, 1998, Remethylation defects: guidelines for clinical diagnosis and treatment, Eur. J. Pediatr., 157, S77, 10.1007/PL00014307 Carrillo-Carrasco, 2012, Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes, J. Inherit. Metab. Dis., 35, 103, 10.1007/s10545-011-9365-x Fishman, 2005, Short-term inter-visit variability of ERG amplitudes in normal subjects and patients with retinitis pigmentosa, Retina, 25, 1014, 10.1097/00006982-200512000-00010 Drexler, 2001, Ultrahigh-resolution ophthalmic optical coherence tomography, Nat. Med., 7, 502, 10.1038/86589 Prakalapakorn, 2012, Longitudinal reproducibility of optical coherence tomography measurements in children, J. AAPOS, 16, 523, 10.1016/j.jaapos.2012.08.011 Papageorgiou, 2014, Nystagmus in childhood, Pediatr. Neonatol., S1875 N.P. Achilly, J.L. Sloan, K.S. Bishop, M.S. Jones, V.J. Hoffman, R.B. Sood, C.P. Venditti, A zebrafish model of cblC disease displays growth retardation that improves with vitamin B12 therapy, Proceedings from American Society Human Genetics 2013 annual meeting, Boston, MA, USA [abstract]. Dharmasena, 2008, Retinopathy in inherited transcobalamin II deficiency, Arch. Ophthalmol., 126, 141, 10.1001/archophthalmol.2007.21 Yu, 2013, An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1, Am. J. Hum. Genet., 93, 506, 10.1016/j.ajhg.2013.07.022 Kikuchi, 1997, Protective effects of methylcobalamin, a vitamin B12 analog, against glutamate-induced neurotoxicity in retinal cell culture, Invest. Ophthalmol. Vis. Sci., 38, 848 Maestro de las Casas, 2003, High exogenous homocysteine modifies eye development in early chick embryos, Birth Defects Res. A Clin. Mol. Teratol., 67, 35, 10.1002/bdra.10014 Lattanzio, 2006, Moderate hyperhomocysteinemia and early-onset central retinal vein occlusion, Retina, 26, 65, 10.1097/00006982-200601000-00011 Sarici, 2012, The association between serum homocysteine levels and retinopathy of prematurity, J. Int. Med. Res., 40, 1912, 10.1177/030006051204000532 Rochtchina, 2007, Elevated serum homocysteine, low serum B12, folate, and age-related macular degeneration: the Blue Mountains Eye Study, Am J. Ophthalmol., 143, 344, 10.1016/j.ajo.2006.08.032 Aydemir, 2008, Plasma and vitreous homocysteine concentrations in patients with proliferative diabetic retinopathy, Retina, 28, 741, 10.1097/IAE.0b013e31816079fb Clement, 2009, Plasma homocysteine, MTHFR gene mutation, and open-angle glaucoma, J. Glaucoma, 18, 73, 10.1097/IJG.0b013e31816f7631 Cross, 1973, Ocular manifestations in the Marfan syndrome and homocystinuria, Am J. Ophthalmol., 75, 405, 10.1016/0002-9394(73)91149-5 Pastore, 2014, Glutathione metabolism in cobalamin deficiency type C (cblC), J. Inherit. Metab. Dis., 37, 125, 10.1007/s10545-013-9605-3 Smith, 2006, Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12, Mol. Genet. Metab., 88, 138, 10.1016/j.ymgme.2006.02.007 Longo, 2005, MRI and 1H-MRS findings in early-onset cobalamin C/D defect, Neuropediatrics, 36, 366, 10.1055/s-2005-873057 Barot, 2011, Mitochondrial dysfunction in retinal diseases, Curr. Eye Res., 36, 1069, 10.3109/02713683.2011.607536 McGuire, 2009, Profiling of oxidative stress in patients with inborn errors of metabolism, Mol. Genet. Metab., 98, 173, 10.1016/j.ymgme.2009.06.007 Goodman, 1970, Homocystinuria with methylmalonic aciduria: two cases in a sibship, Biochem. Med., 4, 500, 10.1016/0006-2944(70)90080-3 Suormala, 2004, The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis, J. Biol. Chem., 279, 42742, 10.1074/jbc.M407733200 Coelho, 2008, Gene identification for the cblD defect of vitamin B12 metabolism, N. Engl. J. Med., 2008, 1454, 10.1056/NEJMoa072200 Miousse, 2009, Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism, J. Pediatr., 154, 551, 10.1016/j.jpeds.2008.10.043 Atkinson, 2014, Clinical, biochemical, and molecular presentation in a patient with the cblD-homocystinuria inborn error of cobalamin metabolism, JIMD Rep., 17, 77, 10.1007/8904_2014_340 Alfadhel, 2011, Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review, Am. J. Med. Genet., 155, 2571, 10.1002/ajmg.a.34220 Rutsch, 2009, Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B(12) metabolism, Nat. Genet., 41, 234, 10.1038/ng.294 Miousse, 2011, Novel splice site mutations and a large deletion in three patients with the cblF inborn error of B12 metabolism, Mol. Genet. Metab., 102, 205, 10.1016/j.ymgme.2011.01.002 Rosenblatt, 1997, Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC), J. Inherit. Metab. Dis., 20, 528, 10.1023/A:1005353530303 Morel, 2006, Combined methylmalonic aciduria and homocystinuria (cblC): phenotype–genotype correlations and ethnic specific observations, Mol. Genet. Metab., 88, 315, 10.1016/j.ymgme.2006.04.001 Wang, 2010, Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China, J. Inherit. Metab. Dis., 33, 435, 10.1007/s10545-010-9217-0 Panfoli, 2012, Beneficial effect of antioxidants in retinopathies: a new hypothesis, Med. Hypothesis Discov. Innov. Ophthalmol., 1, 76 Feng, 2010, α-Tocopherol is an effective phase II enzyme inducer: protective effects on acrolein-induced oxidative stress and mitochondrial dysfunction in human retinal pigment epithelial cells, J. Nutr. Biochem., 21, 1222, 10.1016/j.jnutbio.2009.10.010 Randazzo, 2011, Orally active multi-functional antioxidants are neuroprotective in a rat model of light-induced retinal damage, PLoS One, 6, e21926, 10.1371/journal.pone.0021926 Yin, 2011, Modulation of oxidative stress responses in the human retinal pigment epithelium following treatment with vitamin C, J. Cell. Physiol., 226, 2025, 10.1002/jcp.22532 Kagan, 2012, Efficacy of various antioxidants in the protection of the retinal pigment epithelium from oxidative stress, Clin. Ophthalmol., 6, 1471 Koskela, 2014, Pinosylvin-mediated protection against oxidative stress in human retinal pigment epithelial cells, Mol. Vis., 20, 760 ZhuGe, 2014, Fullerenol protects retinal pigment epithelial cells from oxidative stress-induced premature senescence via activating SIRT1, Invest. Ophthalmol. Vis. Sci., 55, 4628, 10.1167/iovs.13-13732 Mimura, 2013, The role of SIRT1 in ocular aging, Exp. Eye Res., 116, 17, 10.1016/j.exer.2013.07.017 Schimel, 2011, N-acetylcysteine amide (NACA) prevents retinal degeneration by up-regulating reduced glutathione production and reversing lipid peroxidation, Am. J. Pathol., 178, 2032, 10.1016/j.ajpath.2011.01.036 Sadun, 2012, Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy, Arch. Neurol., 69, 331, 10.1001/archneurol.2011.2972 Ghelli, 2008, Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids, Invest. Ophthalmol. Vis. Sci., 49, 671, 10.1167/iovs.07-0880