Achiasma and Kapur-Toriello syndrome: Two rare entities

Grant A Justin; Keith E Earley; Justin G Peacock; Aaron D Grant

doi:10.1016/j.ajoc.2019.100488

Achiasma and Kapur-Toriello syndrome: Two rare entities

Am J Ophthalmol Case Rep. 2019 Jun 5:15:100488. doi: 10.1016/j.ajoc.2019.100488. eCollection 2019 Sep.

Authors

Grant A Justin^{1

2}, Keith E Earley³, Justin G Peacock⁴, Aaron D Grant³

Affiliations

¹ Department of Ophthalmology, Brooke Army Medical Center, San Antonio, TX, USA.
² Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
³ Department of Ophthalmology, Wilford Hall Eye Center, San Antonio, TX, USA.
⁴ Department of Radiology, Brooke Army Medical Center, San Antonio, TX, USA.

Abstract

Purpose: Describe a unique case of achiasma in a patient with Kapur-Toriello syndrome.

Observations: We provide a brief review of achiasma with common findings on examination and imaging studies, and a published classification system. In addition, consistent with the rare Kapur-Toriello syndrome, he had a right unilateral cleft lip and palate, neurologic abnormality in his achiasma, anal atresia, vesicoureteral reflux, hypospadias, and growth deficiency.

Conclusions: and Importance: Achiasma is an incredibly rare neurological deficit and we present the first case of achiasma in Kapur-Toriello syndrome.

Keywords: Achiasma; Kapur-Toriello syndrome.

Publication types

Case Reports