Optic atrophy in association with cobalamin C (cblC) disease.
OBJECTIVE
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.


CONCLUSIONS
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.
Patton
N
N
Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester, United Kingdom.
Beatty
S
S
Lloyd
I C
IC
Wraith
J E
JE
D017668:Age of Onset; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005500:Follow-Up Studies; D006711:Homocystine / Q000097:blood; D006712:Homocystinuria / Q000097:blood / Q000150:complications* / Q000188:drug therapy; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000188:drug therapy; D008764:Methylmalonic Acid / Q000097:blood*; D009896:Optic Atrophy / Q000097:blood / Q000150:complications* / Q000188:drug therapy; D014805:Vitamin B 12 / Q000627:therapeutic use*
D006711:Homocystine; D008764:Methylmalonic Acid; D014805:Vitamin B 12