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

McAllister, JT; Dubis, AM; Tait, DM; Ostler, S; Rha, J; Stepien, KE; Gail Summers, C; (2010) Arrested development: High-resolution imaging of foveal morphology in albinism. Vision Research , 50 (8) pp. 810-817. 10.1016/j.visres.2010.02.003. Green open access

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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.

Type: Article
Title: Arrested development: High-resolution imaging of foveal morphology in albinism
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.visres.2010.02.003
Publisher version: https://doi.org/10.1016/j.visres.2010.02.003
Language: English
Additional information: This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Albinism, Cone mosaic, Fovea, Retinal development, Retinal imaging
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10069872
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