title: DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
abstract: BACKGROUND
  Albinism refers to a group of disorders primarily characterized by hypopigmentation. Affected individuals usually manifest both ocular and cutaneous features of the disease, but occasionally hair and skin pigmentation may appear normal. This is the case in ocular albinism, an X chromosome linked disorder resulting from mutation of GPR143. Female carriers may be recognized by a "mud-splatter" appearance in the peripheral retina. The macula is thought to be normal, however.
  
  
  METHODS
  Obligate female carriers of pathogenic GPR143 alleles were recruited. Molecular confirmation of disease was performed only for atypical cases. Detailed retinal imaging was performed (colour fundus photography, optical coherence tomography, fundus autofluorescence.
  
  
  RESULTS
  Eight individuals were ascertained. A novel GPR143 mutation was identified in one family (p.Gln328Ter). Foveal fundus autofluorescence was subjectively reduced in 6/6 patients imaged. A "tapetal-like" pattern of autofluorescence was visible at the macula in 3/6. Persistence of the inner retinal layers at the fovea was observed in 6/8 females.
  
  
  CONCLUSIONS
  Female carriers of ocular albinism may manifest signs of retinal pigment epithelium mosaicism at the macula and the peripheral fundus. A tapetal-like reflex on fundus autofluorescence may be considered the macular correlate of "mud-splatter."
authors.affiliation: University College London Institute of Ophthalmology, University College London, London, United Kingdom.|Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom.|Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, St James' University Hospital, Leeds, United Kingdom.
authors.forename: Kamron N
authors.initials: KN
authors.lastname: Khan
authors.affiliation: Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, St James' University Hospital, Leeds, United Kingdom.
authors.forename: Emma C
authors.initials: EC
authors.lastname: Lord
authors.affiliation: Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, St James' University Hospital, Leeds, United Kingdom.
authors.forename: Gavin
authors.initials: G
authors.lastname: Arno
authors.affiliation: Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom.
authors.forename: Farrah
authors.initials: F
authors.lastname: Islam
authors.affiliation: NIHR BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.|Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, United Kingdom.
authors.forename: Keren J
authors.initials: KJ
authors.lastname: Carss
authors.affiliation: NIHR BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.|Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
authors.forename: FLucy
authors.initials: F
authors.lastname: Raymond
authors.affiliation: Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, St James' University Hospital, Leeds, United Kingdom.
authors.forename: Carmel
authors.initials: C
authors.lastname: Toomes
authors.affiliation: Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, St James' University Hospital, Leeds, United Kingdom.
authors.forename: Manir
authors.initials: M
authors.lastname: Ali
authors.affiliation: Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, St James' University Hospital, Leeds, United Kingdom.
authors.forename: Chris F
authors.initials: CF
authors.lastname: Inglehearn
authors.affiliation: University College London Institute of Ophthalmology, University College London, London, United Kingdom.|Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Webster
authors.affiliation: University College London Institute of Ophthalmology, University College London, London, United Kingdom.|Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom.|Department of Ophthalmology, University of California San Francisco Medical School, San Francisco, California.
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.affiliation: Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, St James' University Hospital, Leeds, United Kingdom.
authors.forename: James A
authors.initials: JA
authors.lastname: Poulter
authors.affiliation: University College London Institute of Ophthalmology, University College London, London, United Kingdom.|Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom.
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000235:genetics / Q000473:pathology*; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D011446:Prospective Studies; D012160:Retina / Q000473:pathology*; D055213:Retinal Pigment Epithelium / Q000473:pathology
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins