Retinal Contributions to Vision Loss in Albinism
The human fovea supports some of our most important visual functions, such as color discrimination and high acuity vision, but there remain significant gaps in our understanding of foveal development and the exact causal relationships between structural pathology and specific visual deficits. This study employs human albinism (a hereditary condition in which the fovea is grossly underdeveloped) as a natural model to examine these and other key issues. Using advanced non-invasive imaging approaches together with genetic testing, we seek to reveal the physiological and anatomical basis for visual deficits in albinism on a personalized basis and to refine the anatomical outcome measures for use in correlative studies and emerging therapeutic trials in albinism.
Specifically, given the central role of the fovea in our visual function, this study seeks to elucidate the genetic factors affecting normal foveal development, to advance our understanding of a wide range of conditions associated with altered foveal morphology.
Around 300 people will be recruited for this study, with an anticipated ~250 consenting to sharing their data in dbGaP. Next generation sequencing of participant samples will be done to analyze over 100 genes (list below) with links to albinism.
Information collected for each sample for inclusion in this study will include:
- Sequencing-derived raw genetic data of study participants,
- Demographic data, including age, sex, race, Hispanic ethnicity, and gender identity (in some cases)
- Albinism phenotype
- Other related phenotypic data if/when collected: premature birth, AOSLO retinal imaging, ancillary retinal imaging, visual field & fixation evaluation, color vision testing, and macular pigment optical density
- Clinical data when possible/available, such as: stereoacuity, BCVA, foveal pit morphology, NIR autofluorescence signal
- Type: Individual-Level Genomic Data
- Archive: The database of Genotypes and Phenotypes (dbGaP)