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Invest Ophthalmol Vis Sci 2011;52: E-Abstract 2175.
© 2011 ARVO


2175—A145

Variability in Foveal Morphology in Albinism Assessed with SD-OCT

Joseph Carroll1A,1B, Adam M. Dubis1B, Sunita Sayeram2, Philip Sommer1A, Teresa Patitucci1A, John T. McAllister1A, Kimberly E. Stepien1A, Murray H. Brilliant3, Thomas B. Connor, Jr.1A and C. Gail Summers4

AOphthalmology, BCell Biology, Neurobiology, & Anatomy, 1Medical College of Wisconsin, Milwaukee, Wisconsin
2Bioptigen, Inc, Research Triangle Park, North Carolina
3Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin
4Ophthalmology, University of Minnesota, Minneapolis, Minnesota

Commercial Relationships: Joseph Carroll, None; Adam M. Dubis, None; Sunita Sayeram, Bioptigen, Inc. (E); Philip Sommer, None; Teresa Patitucci, None; John T. McAllister, None; Kimberly E. Stepien, None; Murray H. Brilliant, None; Thomas B. Connor, Jr., None; C. Gail Summers, None

Support: Vision for Tomorrow, Research to Prevent Blindness (MCW, UMN), Albinism and Related Eye Disorders Research Fund, NIH Grants EY001931 & EY014537.

Abstract

Purpose:Albinism is typically characterized by foveal hypoplasia, although recent data have demonstrated variation in the degree of hypoplasia. We sought to quantify foveal morphology in individuals with albinism and compare this to normal foveal morphology using newly developed foveal pit metrics.

Methods:We recruited 139 individuals with normal vision (71 male, 68 female; mean age = 27 yrs) and 23 individuals with albinism (6 OA1, 17 OCA; mean age = 24 yrs). Cross-sectional and/or volumetric SD-OCT images of the macula were obtained using the Cirrus HD-OCT or the Bioptigen SD-OCT. Seven subjects were imaged using the hand-held probe of the Bioptigen system, as they were imaged off-site at the National Conference of the National Organization for Albinism and Hypopigmentation (NOAH). Custom Matlab software was used to derive estimates of the depth, diameter, slope, and volume of the foveal pit from the retinal thickness data sets. Dimensions of all OCT scans were corrected for individual differences in axial length in order to ensure accurate absolute measures of pit dimensions.

Results:Normal foveal pit depth ranged from 0.032 to 0.177 mm, diameter ranged from 1.17 to 2.65 mm, and volume ranged from 0.024 to 0.21 mm3. We observed considerable variation in foveal morphology in individuals with albinism - 9 had planar retinal thickness, 6 had mounding at the incipient foveal location but no pit, 7 had mounding and a subtle foveal depression, and 1 had nearly normal foveal morphology (foveal depth = 0.028 mm, foveal diameter = 1.58 mm, foveal volume = 0.016 mm3).

Conclusions:The spectrum of foveal morphology seen in albinism is greater than previously thought. The ability to accurately characterize foveal morphology represents an important first step in separating out retinal versus cortical contributions to visual deficits in these patients.

Keywords: imaging/image analysis: clinical • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • retinal development

© 2011, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.





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