Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

ABSTRACT

Introduction

Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD is optic atrophy, which might be misdiagnosed as multiple sclerosis or neuromyelitis optica, especially in late-onset BD cases.

Methods

In this article, we report a 9-year-old boy with gradual vision loss. Ophthalmologic examination, Brain MRI, and several laboratory tests such as Aquaporin-4 IgG level and biotinidase level were done on the patient.

Results

Bilateral optic atrophy and impaired visual acuity were detected on examination. The patient had a biotin level of 1.25 U/min/ml (normal range 3-9 U/min/ml), favoring the BD.

Conclusion

In this study, we report a 9-year-old boy with vision loss diagnosed with BD. We also reviewed the literature to highlight the ophthalmic manifestations of BD. Ophthalmologists must consider BD in children with unexplained ophthalmologic complaints, especially when other characteristic signs of BD (e.g., developmental delay, seizure) are present. Also, patients with BD should undergo regular annual ophthalmologic examinations to be checked for any signs of eye involvement.

KEYWORDS:

• Biotinidase deficiency
• optic atrophy
• retinopathy
• metabolic disorder
• developmental delay

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Patient consent statement

Written informed consent was obtained from the patient mentioned in the article. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Correction Statement

This article has been corrected with minor changes. These changes do not impact the academic content of the article.

Notes

¹ Biotinidase deficiency.

Additional information

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.