Javier Jardón1, Natalio J Izquierdo2, Jessica Y Renta3, Omar García-Rodríguez4, Carmen L Cadilla3. 1. a Ophthalmology Department , School of Medicine, Medical Sciences Campus, University of Puerto Rico , San Juan , Puerto Rico . 2. 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 . 3. c Biochemistry Department , School of Medicine, Medical Sciences Campus, University of Puerto Rico , San Juan , Puerto Rico , and. 4. d Environmental Health Department , Graduate School of Public Health, Medical Sciences Campus, University of Puerto Rico , San Juan , Puerto Rico.
Abstract
PURPOSE: 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.
PURPOSE: 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 HPSpatients (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.
Authors: Y Anikster; M Huizing; J White; Y O Shevchenko; D L Fitzpatrick; J W Touchman; J G Compton; S J Bale; R T Swank; W A Gahl; J R Toro Journal: Nat Genet Date: 2001-08 Impact factor: 38.330
Authors: Pedro J Santiago Borrero; Yolanda Rodríguez-Pérez; Jessicca Y Renta; Natalio J Izquierdo; Laura Del Fierro; Daniel Muñoz; Norma López Molina; Sonia Ramírez; Glorivee Pagán-Mercado; Idith Ortíz; Enid Rivera-Caragol; Richard A Spritz; Carmen L Cadilla Journal: J Invest Dermatol Date: 2006-01 Impact factor: 8.551
Authors: Libe Gradstein; Edmond J FitzGibbon; Ekaterini T Tsilou; Benjamin I Rubin; Marjan Huizing; William A Gahl Journal: J AAPOS Date: 2005-08 Impact factor: 1.220
Authors: Natalio J Izquierdo; Andrés Emanuelli; Juan C Izquierdo; Maribel García; Carmen Cadilla; María H Berrocal Journal: Retina Date: 2007 Nov-Dec Impact factor: 4.256