Arrested development: High-resolution imaging of foveal morphology in albinism

John T. McAllister; Adam M. Dubis; Diane M. Tait; Shawn Ostler; Jungtae Rha; Kimberly E. Stepien; C. Gail Summers; Joseph Carroll

doi:10.1016/j.visres.2010.02.003

Arrested development: High-resolution imaging of foveal morphology in albinism

John T. McAllister, Adam M. Dubis, Diane M. Tait, Shawn Ostler, Jungtae Rha, Kimberly E. Stepien, C. Gail Summers, Joseph Carroll

Ophthalmology & Visual Neurosciences

Research output: Contribution to journal › Article › peer-review

109 Scopus citations

Abstract

Albinism, an inherited disorder of melanin biosynthesis, disrupts normal retinal development, with foveal hypoplasia as one of the more commonly associated ocular phenotypes. However the cellular integrity of the fovea in albinism is not well understood - there likely exist important anatomical differences that underlie phenotypic variability within the disease and that also may affect responsiveness to therapeutic intervention. Here, using spectral-domain optical coherence tomography (SD-OCT) and adaptive optics (AO) retinal imaging, we obtained high-resolution images of the foveal region in six individuals with albinism. We provide a quantitative analysis of cone density and outer segment elongation demonstrating that foveal cone specialization is variable in albinism. In addition, our data reveal a continuum of foveal pit morphology, roughly aligning with schematics of normal foveal development based on post-mortem analyses. Different albinism subtypes, genetic mutations, and constitutional pigment background likely play a role in determining the degree of foveal maturation.

Original language	English (US)
Pages (from-to)	810-817
Number of pages	8
Journal	Vision Research
Volume	50
Issue number	8
DOIs	https://doi.org/10.1016/j.visres.2010.02.003
State	Published - Apr 2010

Bibliographical note

Funding Information:
J.C. is the recipient of a Career Development Award from Research to Prevent Blindness. This study was supported by NIH Grants P30EY001931 , T32EY014537 , Fight for Sight, The E. Matilda Ziegler Foundation for the Blind, RD and Linda Peters Foundation, The Gene and Ruth Posner Foundation, Hope for Vision, unrestricted departmental grants to the Medical College of Wisconsin and University of Minnesota from Research to Prevent Blindness, and the Albinism & Related Disorders Research Fund at the Minnesota Medical Foundation. The authors thank Dr. Alfredo Dubra for sharing image registration software, Dr. Pooja Godara, Brett Schroeder, & Phyllis Summerfelt for assistance with retinal imaging, and Dr. Janice Burke, Dr. Thomas Connor, Jr., & Melissa Wagner-Schuman for helpful discussions. The authors thank the patients and their families for their time and assistance with the study.

Keywords

Albinism
Cone mosaic
Fovea
Retinal development
Retinal imaging

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title = "Arrested development: High-resolution imaging of foveal morphology in albinism",

abstract = "Albinism, an inherited disorder of melanin biosynthesis, disrupts normal retinal development, with foveal hypoplasia as one of the more commonly associated ocular phenotypes. However the cellular integrity of the fovea in albinism is not well understood - there likely exist important anatomical differences that underlie phenotypic variability within the disease and that also may affect responsiveness to therapeutic intervention. Here, using spectral-domain optical coherence tomography (SD-OCT) and adaptive optics (AO) retinal imaging, we obtained high-resolution images of the foveal region in six individuals with albinism. We provide a quantitative analysis of cone density and outer segment elongation demonstrating that foveal cone specialization is variable in albinism. In addition, our data reveal a continuum of foveal pit morphology, roughly aligning with schematics of normal foveal development based on post-mortem analyses. Different albinism subtypes, genetic mutations, and constitutional pigment background likely play a role in determining the degree of foveal maturation.",

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note = "Funding Information: J.C. is the recipient of a Career Development Award from Research to Prevent Blindness. This study was supported by NIH Grants P30EY001931 , T32EY014537 , Fight for Sight, The E. Matilda Ziegler Foundation for the Blind, RD and Linda Peters Foundation, The Gene and Ruth Posner Foundation, Hope for Vision, unrestricted departmental grants to the Medical College of Wisconsin and University of Minnesota from Research to Prevent Blindness, and the Albinism & Related Disorders Research Fund at the Minnesota Medical Foundation. The authors thank Dr. Alfredo Dubra for sharing image registration software, Dr. Pooja Godara, Brett Schroeder, & Phyllis Summerfelt for assistance with retinal imaging, and Dr. Janice Burke, Dr. Thomas Connor, Jr., & Melissa Wagner-Schuman for helpful discussions. The authors thank the patients and their families for their time and assistance with the study. ",

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AU - Gail Summers, C.

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Arrested development: High-resolution imaging of foveal morphology in albinism

Abstract

Bibliographical note

Keywords

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