Ocular findings in the Hermansky-Pudlak syndrome

Abstract

Background: The Hermansky-Pudlak syndrome (HPS) is defined by the autosomal recessively inherited triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis and accumulation of ceroid in tissues. Late complications include: interstitial pulmonary fibrosis; inflammatory bowel disease; and renal failure.

Patients and methods: We undertook a non-concurrent prospective study of 55 Puerto Rican patients with HPS (age range 1 to 54 yrs; mean = 19.7 yrs). These patients had a comprehensive ocular examination and a systemic evaluation for HPS.

Results: Visual acuities ranged from 20/50 to 5/200. All patients had nystagmus. Forty-three patients had strabismus; esotropia was found in 24 patients; exotropia in 18 patients; and one patient had hypertropia. Posterior embryotoxon occurred in 15 patients and Axenfeld anomaly in 4 patients. Iris pigmentation varied from minimal to almost completely normal. Three patients had cataract formation. The retina was typically albinotic with macular hypoplasia. All patients had cutaneous albinism, bleeding diathesis and various systemic manifestations as part of HPS.

Conclusion: Ocular findings in HPS include reduced visual acuity; congenital nystagmus, strabismus and cataract. Diagnosis of the syndrome ought to be made preoperatively to help minimize the potential complications associated with bleeding diathesis at the time of extraocular muscle and intraocular surgery in patients with HPS.