Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).
OBJECTIVE
To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3.


METHODS
This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening. Descriptive and non-parametric statistical analyses were carried out.


RESULTS
Nearly 70% of the patients were homozygous for common Puerto Rican mutations leading to the HPS1 gene (16-BP DUP, 53.6%), while 30% had the 3904-BP DEL HPS3 gene mutation. Best corrected visual acuity (BCVA) was poorer in patients with type 1 HPS than in patients with type 3 HPS (p < 0.001), esotropia was more common among type 1 HPS patients (p < 0.018), while exotropia was more common among patients with type 3 HPS. Total iris transillumination was more common in patients with type 1 HPS and minimal iris transillumination in patients with type 3 HPS (p < 0.001). The maculae were translucent in patients with type 1 HPS, while patients with type 3 HPS had opaque maculae (p < 0.001).


CONCLUSIONS
Patients with type 1 HPS had poorer BCVA, increased incidence of esotropia, lighter iris and macular appearance. In contrast, patients with type 3 HPS had more exotropia. In addition, to our knowledge this is the largest series type 3 HPS ever reported.
a Ophthalmology Department , School of Medicine, Medical Sciences Campus, University of Puerto Rico , San Juan , Puerto Rico .
Javier
J
Jardón
b Surgery Department , School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico, & Universidad Central del Caribe, School of Medicine , Bayamón , Puerto Rico .
Natalio J
NJ
Izquierdo
c Biochemistry Department , School of Medicine, Medical Sciences Campus, University of Puerto Rico , San Juan , Puerto Rico , and.
Jessica Y
JY
Renta
d Environmental Health Department , Graduate School of Public Health, Medical Sciences Campus, University of Puerto Rico , San Juan , Puerto Rico.
Omar
O
García-Rodríguez
c Biochemistry Department , School of Medicine, Medical Sciences Campus, University of Puerto Rico , San Juan , Puerto Rico , and.
Carmen L
CL
Cadilla
D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005127:Eye Color; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007499:Iris Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies; D013285:Strabismus / Q000175:diagnosis* / Q000235:genetics; D014443:Tyrosine / Q000235:genetics; D014786:Vision Disorders / Q000175:diagnosis* / Q000235:genetics; D014792:Visual Acuity; D055815:Young Adult
D002352:Carrier Proteins; C102160:HPS1 protein, human; C432680:HPS3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014443:Tyrosine
Albinism; Hermansky-Pudlak syndrome; iris transillumination