Spectrum of Foveal Development in Albinism Detected with Optical Coherence Tomography

Background: Optical coherence tomography (OCT) has shown the absence of a foveal depression in an individual with oculocutaneous albinism, type 1 (OCA1) and best-corrected visual acuity (BCVA) of 20/400. However, the presence of an annular light reflex in the macula has been noted with indirect ophthalmoscopy in other patients with albinism who have better vision. We studied macular architecture in albinism with OCT when binocular BCVA was ≥20/60 and compared this to detection of foveal development with binocular indirect ophthalmoscopy. Methods: Eleven patients with albinism and BCVA ≥20/60 were recruited for OCT. Average central macular thickness was recorded. Presence of an oval annular reflex was determined with binocular indirect ophthalmoscopy. Results: Mean binocular BCVA was 20/39 (range: 20/20 to 20/50). Twelve eyes had a rudimentary annular reflex detected with ophthalmoscopy. OCT was reliable in 20 of 22 eyes. A foveal depression was identified with OCT in four eyes. Mean macular thickness for these four eyes was 233 μm (±22.5 μm). We found a weak inverse correlation between BCVA (logMAR) and thickness (r = -0.21). Conclusions: OCT shows the spectrum of foveal development in albinism, from complete absence of development to a central depression corresponding to a rudimentary annular reflex detected with ophthalmoscopy. The reduced rate of detection of foveal development with OCT compared with ophthalmoscopy is likely related to poor fixation in patients with nystagmus.