Arrested Development: High-resolution Imaging of Foveal Morphology in Albinism

Overview

Journal Vision Res

Specialty Ophthalmology

Date 2010 Feb 13

PMID 20149815

Citations 66

Authors

John T McAllister

Adam M Dubis

Diane M Tait

Shawn Ostler

Jungtae Rha

Kimberly E Stepien

C Gail Summers

Joseph Carroll

Affiliations

Soon will be listed here.

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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