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

## TL;DR

A 4-month-old infant with subtle eye movements was diagnosed with OCA2, highlighting the importance of early detection through nystagmus in pediatric care.

## Contribution

The case emphasizes sentinel nystagmus as a key diagnostic clue for OCA2 in infants.

## Key findings

- Nystagmus in infancy can indicate OCA2 when combined with foveal hypoplasia and astigmatism.
- Genetic testing confirmed OCA2 diagnosis through variants in the OCA2 gene.
- Early diagnosis enables timely intervention and multidisciplinary care for affected children.

## Abstract

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.

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.

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.