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. 2015 May-Jun;52(3):167-72.
doi: 10.3928/01913913-20150427-06.

Clinical Insights Into Foveal Morphology in Albinism

Brandon K McCafferty, Melissa A Wilk, John T McAllister, Kimberly E Stepien, Adam M Dubis, Murray H Brilliant, Jennifer L Anderson, Joseph Carroll, C Gail Summers

Clinical Insights Into Foveal Morphology in Albinism

Brandon K McCafferty et al. J Pediatr Ophthalmol Strabismus. 2015 May-Jun.

Abstract

Purpose: 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.

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Conflict of interest statement

The authors have no financial or proprietary interest in the materials presented herein.

Figures

Figure 1
Figure 1
(A,C,E,G) Linear spectral-domain optical coherence tomography scans at the expected fovea (Bioptigen, Research Triangle Park, NC). (B,D,F,H) Retinal thickness maps (Cirrus HD-OCT; Carl Zeiss Meditec, Dublin, CA). (A,B) Normal foveal pit morphology includes doming of the retina with a deep depression at the point of cone outer segment elongation, indicating cone packing. (C,D) JC0103 lacks both the doming and depression of the retina at the expected fovea. (E,F) AD0063 is a representative subject with doming but no depression. (G,H) JC0131 demonstrates foveal morphology that includes both doming and a slight depression at the expected fovea. (Panels C–H were reprinted from McAllister JT, Dubis AM,Tait DM, et al. Arrested development: high-resolution imaging of foveal morphology in albinism. Vis Res. 2010;50:810–817, with permission from Elsevier.)
See this image and copyright information in PMC

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