Eye movement abnormalities in hermansky-pudlak syndrome.
BACKGROUND
Hermansky-Pudlak Syndrome (HPS) is a type of oculocutaneous albinism associated with a bleeding diathesis and pulmonary fibrosis. Although it is known that patients with HPS exhibit nystagmus, the nature of these abnormal eye movements has not been studied.


METHODS
Twenty-seven patients with HPS, diagnosed by platelet morphology and genetic analysis, underwent a systemic evaluation and complete eye examination. Twenty-five had eye movement recordings using magnetic search coil, infrared, or video oculography.


RESULTS
All patients had iris transillumination, foveal hypoplasia, and variable hypopigmentation in skin and eyes. All had bleeding tendencies, and 2 reported excessive bleeding during strabismus surgery. Nine patients had pulmonary fibrosis. Visual acuities ranged from 20/20- to 20/320. Twenty patients had strabismus despite 6 having strabismus surgery previously. Ocular oscillations consistent with congenital nystagmus (CN) were clinically evident in 24 of 27 patients, and half showed periodic alternating nystagmus. In 3 patients without CN, eye movement recordings revealed minimal end-gaze nystagmus, square-wave jerks, drift during fixation and saccades, and low-gain pursuit. These patients had melanin in the posterior pole and better visual acuities than the others (P = 0.002).


CONCLUSIONS
Most patients with HPS have CN, and many have periodic alternating nystagmus. Some have subtle eye movement abnormalities without clinically evident nystagmus, which can obscure the diagnosis, especially if hypopigmentation is mild. Absence of clinical nystagmus in a child with HPS suggests good vision. Patients with albinism, especially before surgery, should be evaluated for HPS to prevent life-threatening complications.
Gradstein
Libe
L
Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA. libe@nei.nih.gov
FitzGibbon
Edmond J
EJ
Tsilou
Ekaterini T
ET
Rubin
Benjamin I
BI
Huizing
Marjan
M
Gahl
William A
WA
D000293:Adolescent; D000328:Adult; D002648:Child; D003941:Diagnostic Techniques, Ophthalmological; D005133:Eye Movements; D005260:Female; D005654:Fundus Oculi; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000209:etiology*; D014792:Visual Acuity