An infant was brought to the emergency department by his mother referred from his pediatrician after a routine well-child visit. Parents had noticed severe light sensitivity, but patient was otherwise developing well. Patient grimaced to light in both eyes but had poor fixation associated with bilateral conjugate horizontal uniplanar pendular nystagmus. Exam revealed marked diffuse iris transillumination and a pale fundus with no foveal pigment. Given suspected albinism, initial genetic testing was ordered, with inconclusive results and multiple variants of undetermined significance not related to patient’s phenotype. The patient was then seen by a geneticist who confirmed a diagnosis of Hermansky-Pudlak Syndrome (HPS) after demonstrating decreased dense platelet granules and a homozygous deletion in the HPS-3 gene with an oculocutaneous albinism genetic panel. Patient continued to follow up with pediatric ophthalmology and neuro-ophthalmology. He later developed and intermittent esotropia and cycloplegic refraction revealed symmetric hyperopia with astigmatism. Glasses were recommended, but only limited compliance with treatment was achieved. HPS is characterized by oculocutaneous albinism and bleeding tendency. Ocular manifestations of this condition include iris transillumination, foveal hypoplasia, nystagmus and strabismus. This condition should remain in the differential diagnosis of children with nystagmus, particularly if they have Puerto Rican origins.
Presentation Date: 03/31/2022
Issue Date: 04/08/2022