Visual Abnormalities In Patients With Cobalamin C Type Methylmalonic Aciduria With Homocystinuria

Abstract

 

Purpose:

 

To report the largest series of patients with ophthalmic complicationsfrom Cobalamin-C type methylmalonic aciduria with homocystinuria

 

Methods:

 

Retrospective chart review of cases of Cobalamin C disease attwo institutions

 

Results:

 

A total of eight cases of Cobalamin C type methylmalonic aciduriaand homocystinuria type are reported. (Table 1) Six patientswere male and two were female. Age at initial ocular examinationranged from three and a half months to 11 years of age. Sixpatients had nystagmus and four had strabismus at presentation.Two patients had definitive optic nerve pallor and one had questionablepallor. All patients had retinal findings ranging from peripheralpigmentary changes and mottling of the retina to central macularatrophy with Bull’s eye lesions. (Figure 1) ERG was performedin five of the eight patients, three of whom showed decreasedscotopic and photopic responses.

 

Conclusions:

 

Various ocular complications are found in patients with Cobalamin-Cdisease. Findings are variable and can include nystagmus, strabismus,optic nerve pallor, pigmentary retinopathy and decreased ERGresponses.  

 

 

Keywords: retina • retinal degenerations: hereditary • metabolism