197
Views
2
CrossRef citations to date
0
Altmetric
Case Reports

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3)

, , , &
Pages 89-94 | Received 08 Dec 2012, Accepted 16 Mar 2014, Published online: 28 Apr 2014

References

  • Tomita Y, Takeda A, Okinaga S, et al. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989;164:990–996
  • Lee S-T, Nicholls RD, Jong MTC, et al. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 1995;26:354–363
  • Boissy RE, Zhao H, Oetting WS, et al. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as ‘OCA3’. Am J Hum Genet 1996;58:1145–1156
  • Newton JM, Cohen-Barak O, Hagiwara N, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 2001;69:981–988
  • Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci 2008;49:868–872
  • Witkop CJ, Nuñez Babcock M, Rao GH, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med PR 1990;82:333–339
  • Spritz RA. Multiorganellar disorders of pigmentation: tied up in traffic. Clin Genet 1999;55:309–317
  • Santiago Borrero PJ, Rodriguez-Perez Y, Renta JY, et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol 2006;126:85–90
  • Wildenberg SC, Oetting WS, Almodovar C, et al. A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet 1995;57:755–765
  • Fukai K, Oh J, Frenk E, et al. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Molec Genet 1995;4:1665–1669
  • Oh J, Bailin T, Fukai K, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet 1996;14:300–306
  • Anikster Y, Huizing M, White J, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genet 2001;28:376–380
  • Suzuki T, Li W, Zhang Q, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nature Genet 2002;30:321–324
  • Iwata F, Reed GF, Caruso RC, et al. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the TYPE 1 HPS gene of Hermansky-Pudlak syndrome, a form of albinism. Ophthalmology 2000;107:783–789
  • Izquierdo NJ, Townsend W, Hussels IE. Ocular findings in the Hermansky-Pudlak syndrome. Trans Am Ophthalmol Soc 1995;93:191–200; discussion 200–202
  • Izquierdo NJ, Emanuelli A, Izquierdo JC, et al. Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina 2007;27:1227–1230
  • Rodríguez JA, Blasini M 2nd, Blasini M, et al. Color vision in patients with the Hermansky-Pudlak syndrome. Bol Asoc Med PR 2004;96:84–90
  • Summers CG, Knobloch WH, Witkop CJ Jr, et al. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology 1988;95:545–554
  • Gradstein L, FitzGibbon EJ, Tsilou ET, et al. Eye movement abnormalities in Hermansky-Pudlak syndrome. J AAPOS 2005;9:369–378
  • Tsilou ET, Rubin BI, Reed GF, et al. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Ophthalmology 2004;111:1599–1603
  • Giebel LB, Strunk KM, Spritz RA. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 1991;9:435–445
  • Bailin T, Oh J, Feng GH, et al. Organization and nucleotide sequence of the human Hermansky–Pudlak Syndrome (HPS) gene. J Invest Dermatol 1997;108:923–927
  • Durham-Pierre D, King RA, Naber JM, et al. Estimation of the carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African Americans. Hum Mutat 1996;7:370–373
  • Torres-Serrant M, Ramirez SI, Cadilla CL, et al. Newborn screening for Hermansky-Pudlak syndrome type 3 in Puerto Rico. J Pediatr Hematol Oncol 2010;32:448–453
  • Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis 2007;2:43
  • Sampath V, Bedell HE. Distribution of refractive errors in albinos and persons with idiopathic congenital nystagmus. Optom Vis Sci 2002;79:292–299
  • Sen T, Mullerpattan J, Agarwal D, et al. Hermansky-Pudlak syndrome. J Assoc Physicians India 2009;57:660–662
  • Lacour JP, Ortonne JP. Oculocutaneous albinism. Ann Pediatr (Paris) 1992;39:409–401
  • Gahl WA, Huizing M. Hermansky-Pudlak Syndrome. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993--2014. 2000 Jul 24 [updated 2013 Feb 28]

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.