Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria.

[homocystinuria without methylmalonic aciduria]

To report the ocular complications of cobalamin-C type methylmalonic aciduria with homocystinuria (cblC ) in a large consecutive series of patients .Medical records of patients with genetically diagnosed cblC disease from Mount Sinai Medical Center , New York , and Hôpital Necker , Paris , France , were reviewed . All patients with the diagnosis of cblC seen after January 2008 at Mount Sinai and January 1998 at Hôpital Necker were included .A total of 9 cases are reported . Age at initial ocular examination ranged from 3 .5 months to 10 years of age . All 9 patients had early -onset disease , with manifestation of disease presenting prior to 1 year of age . Two patients had definitive optic nerve pallor . All patients had retinal findings ranging from peripheral pigmentary retinal changes to central macular atrophy with Bull 's eye lesions . Optical coherence tomography was performed on one child and showed retinal thinning in the area of the bull 's eye lesions . Electroretinography was performed in 6 of the 9 patients , three of whom showed decreased scotopic and photopic responses . The other three patients had normal responses on electroretinography .Ocular findings in patients with cblC are variable . All patients in the study exhibited early -onset disease and had noteworthy ophthalmic findings . To the best of our knowledge , this is the first study in the literature correlating optical coherence tomography findings with fundus findings in cblC .