title: Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.
abstract: OBJECTIVE
  Short-wavelength (SW) fundus autofluorescence (AF) is considered to originate from lipofuscin in retinal pigment epithelium (RPE) and near-infrared (NIR) AF from melanin. In patients with recessive Stargardt disease (STGD1), we correlated SW-AF and NIR-AF with structural information obtained by spectral-domain optical coherence tomography (SD-OCT).
  
  
  METHODS
  Twenty-four STGD1 patients (45 eyes; age 8 to 61 years) carrying confirmed disease-associated ABCA4 mutations were studied prospectively. Short-wavelength AF, NIR-AF, and SD-OCT images were acquired.
  
  
  RESULTS
  Five phenotypes were identified according to features of the central lesion and extent of fundus change. Central zones of reduced NIR-AF were typically larger than areas of diminished SW-AF and reduced NIR-AF usually approximated areas of ellipsoid zone (EZ) loss identified by SD-OCT (group 1; r, 0.93, P < 0.0001). In patients having a central lesion with overlapping parafoveal rings of increased NIR-AF and SW-AF (group 3), the extent of EZ loss was strongly correlated with the inner diameter of the NIR-AF ring (r, 0.89, P < 0.0001) and the eccentricity of the outer border of the NIR-AF ring was greater than that of the SW-AF ring.
  
  
  CONCLUSIONS
  Lesion areas were more completely delineated in NIR-AF images than with SW-AF. In most cases, EZ loss was observed only at locations where NIR-AF was reduced or absent, indicating that RPE cell atrophy occurs in advance of photoreceptor cell degeneration. Because SW-AF was often increased within the central area of EZ disruption, degenerating photoreceptor cells may produce lipofuscin at accelerated levels. Consideration is given to mechanisms underlying hyper-NIR-AF in conjunction with increased SW-AF.
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States Department of Ophthalmology, Charité, University Medicine Berlin, Berlin, Germany.
authors.forename: Tobias
authors.initials: T
authors.lastname: Duncker
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States.
authors.forename: Marcela
authors.initials: M
authors.lastname: Marsiglia
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States.
authors.forename: Winston
authors.initials: W
authors.lastname: Lee
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States.
authors.forename: Jana
authors.initials: J
authors.lastname: Zernant
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States.
authors.forename: Vivienne C
authors.initials: VC
authors.lastname: Greenstein
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.
authors.forename: Janet R
authors.initials: JR
authors.lastname: Sparrow
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D005451:Fluorescein Angiography / Q000379:methods*; D005584:Fovea Centralis / Q000473:pathology; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D061848:Optical Imaging / Q000379:methods; D010641:Phenotype; D011446:Prospective Studies; D019265:Spectroscopy, Near-Infrared / Q000379:methods; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence; D055815:Young Adult
keywords: ABCA4; fundus autofluorescence; lipofuscin; melanin; optical coherence tomography; recessive Stargardt disease; retinal pigment epithelium; scanning laser ophthalmoscope