Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability.

Foveal thickness and macular volume in patients with oculocutaneous albinism.

Izquierdo NJ, Emanuelli A, Izquierdo JC, García M, Cadilla C, Berrocal MH

From the Department of Ophthalmology of the University of Puerto Rico, Medical Sciences Campus, San Juan.

PURPOSE:: To measure foveal thickness and macular volume in patients with oculocutaneous albinism (OCA) using optical coherence tomography (OCT) technology and to evaluate the possible association between albinism type and OCT retinal findings. METHODOLOGY:: The authors measured retinal structures such as foveal thickness and macular volume of patients and obligate carriers of the various types of OCA using OCT technology. RESULTS:: Participants with OCA (all types included) have thicker foveas (P = 0.0009) and less macular volume (P = 0.0022) than the general population. Carriers of mutations leading to OCA (all types included) have normal foveal thicknesses and higher macular volumes (P = 0.0009) than the general population. Participants with Hermansky-Pudlak syndrome (HPS)-Type 1 have thicker foveas but less macular volume (P = 0.0468) than the general population. CONCLUSIONS:: 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.

Published 29 November 2007 in Retina, 27(9): 1227-30.
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