Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting

Janan Niknam; Arpineh Petrosyan; Victoria Agustin; Amanda Shoubaki

doi:10.1155/crpe/5514931

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting

Case Rep Pediatr. 2026 Jan 9:2026:5514931. doi: 10.1155/crpe/5514931. eCollection 2026.

Authors

Janan Niknam¹, Arpineh Petrosyan¹, Victoria Agustin¹, Amanda Shoubaki²

Affiliations

¹ College of Osteopathic Medicine, William Carey University, Hattiesburg, Mississippi, USA.
² Department of Pediatrics, South Central Regional Medical Center, 1220 Jefferson St., Laurel, Mississippi, USA.

Abstract

Purpose: To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder.

Observation: A 4-month-old female presented with subtle, roving eyes that were initially attributed to normal development. A subsequent evaluation by a pediatric ophthalmologist, prompted by a high index of suspicion, confirmed the findings of nystagmus, mild foveal hypoplasia, and astigmatism. Genetic testing confirmed the presence of pathological variants of the OCA2 gene, leading to a diagnosis of oculocutaneous albinism.

Conclusion and importance: This case highlights the importance of a meticulous ophthalmologic examination and a high index of suspicion in pediatric care. The early finding of nystagmus can be the key to a timely diagnosis of OCA2. This allows for early intervention to optimize visual development and allows for multidisciplinary management and genetic counseling for the family. This case underscores the need for ongoing education in enhancing the early detection of OCA.

Keywords: case report; nystagmus; oculocutaneous albinism.