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

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.