PURPOSE: To report the association of optic atrophy with cobalamin C (cblC) disease. METHODS: Descriptive case reports on three patients, two of whom were siblings. RESULTS: All three patients with cblC disease exhibited bilateral optic atrophy with decreased visual acuity. Of the two siblings, the younger sister had received cobalamin supplements from birth and the mother had been given cobalamin supplements prenatally. CONCLUSION: These three cases confirm the association of optic atrophy with cblC disease. Early treatment with cobalamin supplements does not appear to prevent the development of optic atrophy.
PURPOSE: To report the association of optic atrophy with cobalamin C (cblC) disease. METHODS: Descriptive case reports on three patients, two of whom were siblings. RESULTS: All three patients with cblC disease exhibited bilateral optic atrophy with decreased visual acuity. Of the two siblings, the younger sister had received cobalamin supplements from birth and the mother had been given cobalamin supplements prenatally. CONCLUSION: These three cases confirm the association of optic atrophy with cblC disease. Early treatment with cobalamin supplements does not appear to prevent the development of optic atrophy.
Authors: Lucas Bonafede; Can H Ficicioglu; Leona Serrano; Grace Han; Jessica I W Morgan; Monte D Mills; Brian J Forbes; Stefanie L Davidson; Gil Binenbaum; Paige B Kaplan; Charles W Nichols; Patrick Verloo; Bart P Leroy; Albert M Maguire; Tomas S Aleman Journal: Invest Ophthalmol Vis Sci Date: 2015-12 Impact factor: 4.799
Authors: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Gülden Gökçay; Stephanie Grünewald; Johannes Häberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; László Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi-Vici Journal: J Inherit Metab Dis Date: 2014-03-06 Impact factor: 4.982
Authors: Brian P Brooks; Amy H Thompson; Jennifer L Sloan; Irini Manoli; Nuria Carrillo-Carrasco; Wadih M Zein; Charles P Venditti Journal: Ophthalmology Date: 2016-01-26 Impact factor: 12.079