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SA Ianchulev; Optic Nerve Atrophy in Organic Acidurias : A Novel Association in Patients with Propion . Invest. Ophthalmol. Vis. Sci. 2002;43(13):2628.
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Purpose: Optic nerve abnormalities have never been previously detected in organoaciduric disorders such as PA or MMA. Similarly, metabolic excess of organic acids has not been related to atrophic changes in the axonal pathways from the neurosensory retina. This study investigates the role of the metablic derangements underlying propionic aciduria in visual function and development. Methods: In this prospective cohort less than a dozen children with propionic aciduria, with ages ranging from less than one year old to 19 years of age, born and followed at LACH over the last 10 years, were evaluated for ophthalmic abnormalities. Results: Optic nerve atrophy was present in 3 patients, all of them male and in none of the female patients. The optic nerve atrophy was bilateral, and no familiar etiologies were found to explain the symmetric pallor of the optic discs. Furthermore, there were no other anomalies of the anterior and posterior segments besides one case of unilateral morning glory syndrome diagnosed at birth. Conclusion: These results suggest an association between optic nerve atrophy and propionic aciduria in more than 50% of the cases reviewed. Whether the organic aciduria is the direct cause for the atrophic changes in the optic nerve or there is an underlying genetic link is the subject of further investigation. Similarly, the incidence of optic nerve atrophy in other organic acidurias, such as MMA, warrants careful review.
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