Foveal Thickness and Macular Volume in Patients With Oculocutaneous Albinism

Abstract

Results of this study suggest that patients with OCA (all types included) and patients with HPS-1 have thicker foveas than the general population. This may be due to the absence of foveal pit as part of foveal hypoplasia associated with OCA. Conversely, participants have lower macular volumes than the general population. This finding is compatible with loss of retinal nuclear layers in patients with OCA.

Foveal Hypoplasia in Oculocutaneous Albinism and the Role of OCT

“…These findings have also been described in studies by various colleagues [4][5][6]. She was advised to wear photo chromatic / dark glasses whenever she found photophobia bothersome.…”

“…We also referred her to the Institute of Medical genetics where she was given genetic counselling. While the role of OCT has been utilized in the diagnosis and management of conditions such as Diabetic macular edema, Age related macular degeneration, Stargardt's disease [7,8] and Retinitis Pigmentosa [9], in recent years there has been a lot of interest on the role of OCT in Albinism [5,10].…”

Amblyopia and Foveal Thickness

“…The structural feature of the foveae in amblyopic eyes is hypoplasia similar to albinotic and nanophthalmic eyes. [15][16][17][18] The fovea is thicker and flatter in these eyes. Since there are no histologic preparations of the retina in amblyopic eyes, it is impossible to determine the exact composition of the foveal area.…”

Childhood macular dystrophies

“…Fundus examination reveals the lack of a foveal pit and absence of luteal pigment. These changes can be readily demonstrated using optical coherence tomography (OCT) and confocal fundus autofluorescence imaging (FAF) [1][2][3][4]. The retinal vessels often cross the putative foveal region.…”