title: Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.
abstract: Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA. This mutation has been described in the Canary Islands. Historically, there has been a migration from the Canary Islands to some regions of Puerto Rico.
  
  
  OBJECTIVE
  To report on the ocular findings of two Puerto Rican patients with OCA IA due to the G47D Tyrosinase gene mutation. PATIENT AND FINDINGS: Two unrelated patients with OCA underwent a comprehensive eye examination and were referred for genetic analysis. Patients had almost total iris transillumination, clear lenses, foveal hypoplasia with transparent maculae, and albinotic mid peripheries. Both patients had nystagmus, and only one patient had strabismus.
  
  
  CONCLUSIONS
  Patients with the G47D muta- tion leading to OCA IA have poor visual acuities and poorly pigmented phenotypic ophthalmic findings. Further studies comparing ocular findings in patients th several mutations leading to OCA IA are warranted. To our knowledge this is the first report on ocular findings in Puerto Rican patients with OCA type IA with the rare G47D mutation.
authors.affiliation: UPR School of Medicine; Medical Sciences Campus, San Juan, Puerto Rico.
authors.forename: Ferdinand
authors.initials: F
authors.lastname: Rodríguez-Agramonte
authors.forename: Natalio J
authors.initials: NJ
authors.lastname: Izquierdo
authors.forename: Carmen
authors.initials: C
authors.lastname: Cadilla
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D011647:Puerto Rico
chemical_list: D014442:Monophenol Monooxygenase