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.
Bibliographical noteFunding 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.
- Cone mosaic
- Retinal development
- Retinal imaging