title: Clinical Insights Into Foveal Morphology in Albinism.
abstract: OBJECTIVE
  A hallmark of albinism is foveal hypoplasia. However, literature suggests variable foveal development. This study evaluates the association between ocular phenotype and foveal morphology to demonstrate the broad structural and functional spectrum.
  
  
  METHODS
  Best-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism. Spectral-domain optical coherence tomography provided macular images.
  
  
  RESULTS
  The clinical phenotype was broad, with BCVA varying from 20/20 to 20/100. Better BCVA was associated with a preserved foveal avascular zone, annular macular reflex, stereoacuity, and macular melanin. Imaging demonstrated a continuum of foveal development correlating with BCVA. Individuals with a rudimentary pit had normal inner and outer segment lengthening and better BCVA.
  
  
  CONCLUSIONS
  The spectrum of ocular structure and visual function in albinism is broad, suggesting a possible diagnosis of albinism in a patient with an even more normal clinical presentation.
authors.forename: Brandon K
authors.initials: BK
authors.lastname: McCafferty
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Wilk
authors.forename: John T
authors.initials: JT
authors.lastname: McAllister
authors.forename: Kimberly E
authors.initials: KE
authors.lastname: Stepien
authors.forename: Adam M
authors.initials: AM
authors.lastname: Dubis
authors.forename: Murray H
authors.initials: MH
authors.lastname: Brilliant
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Anderson
authors.forename: Joseph
authors.initials: J
authors.lastname: Carroll
authors.forename: C Gail
authors.initials: CG
authors.lastname: Summers
mesh_terms: D000293:Adolescent; D000328:Adult; D000369:Aged, 80 and over; D016117:Albinism, Ocular / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D003867:Depth Perception / Q000502:physiology; D005074:Evoked Potentials, Visual; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities / Q000473:pathology*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000175:diagnosis; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
chemical_list: D005136:Eye Proteins; D008565:Membrane Proteins