Achiasma and Kapur-Toriello syndrome: Two rare entities

Grant A. Justin*, Keith E. Earley, Justin G. Peacock, Aaron D. Grant

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish
Article number100488
JournalAmerican Journal of Ophthalmology Case Reports
StatePublished - Sep 2019
Externally publishedYes


  • Achiasma
  • Kapur-Toriello syndrome


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