Achiasma and Kapur-Toriello syndrome: Two rare entities

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

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Bibliographic Details
Published inAmerican journal of ophthalmology case reports Vol. 15; p. 100488
Main Authors Justin, Grant A, Earley, Keith E, Peacock, Justin G, Grant, Aaron D
Format Journal Article
LanguageEnglish
Published United States Elsevier 01.09.2019
Subjects
Case Report
Kapur-Toriello syndrome
Achiasma
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Summary:Describe a unique case of achiasma in a patient with Kapur-Toriello syndrome. 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. and Importance: Achiasma is an incredibly rare neurological deficit and we present the first case of achiasma in Kapur-Toriello syndrome.
ISSN:2451-9936
2451-9936
DOI:10.1016/j.ajoc.2019.100488