Abstract
Objective: To quantify foveal maturity in individuals clinically described as having ocular albinism.
Methods: We examined 5 patients with X-linked ocular albinism (OA). Spectral domain optical coherence tomography was used to obtain volumetric and cross-sectional images of the macula. Imaging of the cone photoreceptor mosaic in three individuals was done using a high-speed adaptive optics flood-illuminated fundus camera.
Results: OCT revealed an absence of a foveal pit in 4 of the patients, however a significant “mounding” was present at the location of the nascent fovea in all subjects. There was slight lengthening of the central outer segment layer, though it was significantly below normal. Adaptive optics imaging revealed abnormal cone packing in the 3 patients we imaged.
Conclusions: We show that foveal development occurs in X-linked OA, but to an incomplete state, at least in these 5 patients. While a qualitative nomenclature for such individuals has been proposed (e.g., foveal hypoplasia vs fovea plana) we propose that a more quantitative description of the central retina could be adopted given the emerging availability of non-invasive, high-resolution imaging modalities. Such metrics would be applicable to the study of OA and other conditions involving interrupted foveal development.