Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.

[homocystinuria without methylmalonic aciduria]

To describe the long -term ophthalmologic outcomes of patients with methylmalonic aciduria and homocystinuria , cobalamin C type (cblC ).Retrospective case series .All patients with cblC referred to the Department of Ophthalmology of the Centre Hospitalier Universitaire Sainte-Justine from 1984 through 2012 were studied . Twelve such patients were identified .Clinical ophthalmic examinations , neuroimaging , electroretinography , and the results of MMACHC mutation analysis were reviewed retrospectively .We examined visual acuity , ocular alignment , presence of maculopathy and peripheral retinopathy , optic atrophy , and nystagmus . Photopic and scotopic electroretinograms were reviewed . We examined and compared mutations in the MMACHC gene . Neuroimaging abnormalities were compiled when available .Twelve cblC patients were followed up from 2 to 23 years (average , 10 years ). Eleven of 12 patients were diagnosed before the age of 1 year (range , birth -2 years ). An initial ophthalmic examination was performed within the first year of age in 9 of 12 patients . Visual acuity at the time of presentation was variable , ranging from light perception to 20 /20 . Visual acuity was worse than 20 /100 in 75 % (9 /12 ) of patients at last follow-up . Eight patients (67 %) had obvious maculopathy on fundus examination . Other findings included peripheral retinopathy (8 /12 [67 %]), nystagmus (8 /12 [67 %]), strabismus (5 /12 [42 %]), and optic atrophy (6 /12 [50 %]). Funduscopic deterioration was documented in 1 patient , whereas electrophysiologic changes occurred in 4 patients . Neuroimaging results were available in 7 of the patients , revealing corpus callosum atrophy (7 /7 [100 %]) and periventricular white matter loss (6 /7 [85 %]).Most children in our series had early -onset disease with neurologic manifestations and abnormal ophthalmologic examination results . Despite early treatment , many early -onset cblC patients have poor visual function .

Diseases
Validation

Diseases presenting "visual acuity" symptom

achondroplasia

acute rheumatic fever

aniridia

coats disease

cohen syndrome

congenital toxoplasmosis

homocystinuria without methylmalonic aciduria

lamellar ichthyosis

oculocutaneous albinism

typhoid

von hippel-lindau disease

zellweger syndrome

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