Arrested development: high-resolution imaging of foveal morphology in albinism. Vision Res 2010 Apr 07;50(8):810-7
Date
02/13/2010Pubmed ID
20149815Pubmed Central ID
PMC2838989DOI
10.1016/j.visres.2010.02.003Scopus ID
2-s2.0-77950517860 (requires institutional sign-in at Scopus site) 110 CitationsAbstract
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.
Author List
McAllister JT, Dubis AM, Tait DM, Ostler S, Rha J, Stepien KE, Summers CG, Carroll JAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Albinism, Ocular
Child
Female
Fovea Centralis
Humans
Male
Tomography, Optical Coherence
Visual Acuity
Young Adult
