Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography.

PURPOSE: To document, in vivo, the foveal morphology and thickness in a patient with oculocutaneous albinism.

METHODS

Observational case report. In a 10-year-old female with oculocutaneous albinism, multiple cross-sectional scans of the fovea were performed using optical coherence tomography.

RESULTS

Optical coherence tomography scans were unable to detect the foveal pit. A widespread thickening of the retina occurred throughout the entire fovea with no difference from the surrounding macula. The foveal thickness was greater than 300 microm in the eyes of this patient with oculocutaneous albinism, compared with 150 microm in the normal eye. The inner retina had a highly reflective signal on optical coherence tomography.

CONCLUSION

Optical coherence tomography demonstrated in the anatomical location of the fovea a highly reflective inner retinal signal, possibly consistent with multiple layers of ganglion cells, and it confirmed foveal hypoplasia in a patient with oculocutaneous albinism.