title: Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue.
abstract: BACKGROUND
  H syndrome is an autosomal recessive histiocytosis with multisystemic involvement caused by mutations in the SLC29A3 gene. The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/flexion contractures. Almost 100 individuals affected with this disorder have been reported, however, a thorough evaluation of the ophthalmologic features of H syndrome has not yet been performed.
  
  
  METHODS
  Ophthalmic examination of a 50-year-old male with H syndrome. Mutation analysis of SLC29A3 was also performed in this patient.
  
  
  RESULTS
  Ophthalmic findings included; shallow orbits with exorbitism, bilateral pterygium, limbal thickening, corneal arcus and cortical cataract. We also review ophthalmologic findings in previously reported H syndrome patients.
  
  
  CONCLUSIONS
  The presence of dilated lateral scleral vessels, corneal arcus and shallow orbits should raise the suspicion of H syndrome, especially when seen in young age.
authors.affiliation: a Department of Dermatology .|b The Center for Genetic Diseases of the Skin and Hair , and.
authors.forename: Vered
authors.initials: V
authors.lastname: Molho-Pessach
authors.affiliation: c Department of Ophthalmology , Hadassah-Hebrew University Medical Center , Jerusalem , Israel.
authors.forename: Hadas
authors.initials: H
authors.lastname: Mechoulam
authors.affiliation: a Department of Dermatology .
authors.forename: Rula
authors.initials: R
authors.lastname: Siam
authors.affiliation: b The Center for Genetic Diseases of the Skin and Hair , and.
authors.forename: Sofia
authors.initials: S
authors.lastname: Babay
authors.affiliation: a Department of Dermatology .|b The Center for Genetic Diseases of the Skin and Hair , and.
authors.forename: Yuval
authors.initials: Y
authors.lastname: Ramot
authors.affiliation: a Department of Dermatology .|b The Center for Genetic Diseases of the Skin and Hair , and.
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D001112:Arcus Senilis / Q000175:diagnosis*; D002386:Cataract / Q000175:diagnosis*; D003286:Contracture / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D005094:Exophthalmos / Q000175:diagnosis*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D015614:Histiocytosis / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D016850:Limbus Corneae / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D033703:Nucleoside Transport Proteins / Q000235:genetics; D011625:Pterygium / Q000175:diagnosis*; D012590:Sclera / Q000098:blood supply; D014652:Vascular Diseases / Q000175:diagnosis
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human
keywords: Corneal arcus; H syndrome; SLC29A3; histiocytosis