Arrested development: high-resolution imaging of foveal morphology in albinism.

PubMed ID: 20149815

Author(s): McAllister JT, Dubis AM, Tait DM, Ostler S, Rha J, Stepien KE, Summers CG, Carroll J. Arrested development: high-resolution imaging of foveal morphology in albinism. Vision Res. 2010 Apr 7;50(8):810-7. doi: 10.1016/j.visres.2010.02.003. Epub 2010 Feb 10. PMID 20149815

Journal: Vision Research, Volume 50, Issue 8, Apr 2010

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.