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Optic Neuropathy Due to Biotinidase Deficiency in a 19-Year-Old Man

Scott R. Haines, MD1,2,3; Reid A. Longmuir, MD3
[+] Author Affiliations
1Department of Neurology, Virginia Commonwealth University, Richmond
2Department of Ophthalmology, Virginia Commonwealth University, Richmond
3Department of Ophthalmology, University of Iowa, Iowa City
JAMA Ophthalmol. 2014;132(2):228-230. doi:10.1001/jamaophthalmol.2013.6249.
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Biotinidase deficiency is an autosomal recessive condition in which the normal recycling of biotin is deficient. If untreated, infants with biotinidase deficiency will develop neurologic derangements including optic atrophy.1 We describe a case of optic neuropathy due to biotinidase deficiency in a 19-year-old man.

Article InformationCorresponding Author: Scott R. Haines, MD, Departments of Neurology and Ophthalmology, Virginia Commonwealth University, 417 N 11th St, Fifth Floor, PO Box 980599, Richmond, VA 23298 (shaines@mcvh-vcu.edu).

Author Contributions: Dr Haines had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

Study concept and design: Haines.

Acquisition of data: Haines, Longmuir.

Analysis and interpretation of data: Haines, Longmuir.

Drafting of the manuscript: Haines.

Critical revision of the manuscript for important intellectual content: Longmuir.

Administrative, technical, and material support: Longmuir.

Study supervision: Longmuir.

Conflict of Interest Disclosures: None reported.

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Figure 1.
Goldmann Perimetry

Goldmann perimetry demonstrates cecocentral scotoma in the left and right eyes (A) with incomplete resolution after treatment (B). OK indicates okay.

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Figure 2.
Fundus Photographs and Optical Coherence Tomography

Fundus photographs demonstrate temporal disc pallor (A) and optical coherence tomography shows corresponding atrophy of the temporal peripapillary retinal nerve fiber layer (B). I indicates inferior; N, nasal; S, superior; and T, temporal.

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