Foveal thickness and macular volume in patients with oculocutaneous albinism.

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.
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.
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.
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.
AuthorsNatalio J Izquierdo, Andrés Emanuelli, Juan C Izquierdo, Maribel García, Carmen Cadilla, María H Berrocal
JournalRetina (Philadelphia, Pa.) (Retina) 2007 Nov-Dec Vol. 27 Issue 9 Pg. 1227-30 ISSN: 0275-004X [Print] United States
PMID18046229 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
  • Adolescent
  • Adult
  • Aged
  • Albinism, Oculocutaneous (diagnosis, genetics)
  • Body Weights and Measures
  • Child
  • Child, Preschool
  • Female
  • Fovea Centralis (pathology)
  • Humans
  • Macula Lutea (pathology)
  • Male
  • Middle Aged
  • Tomography, Optical Coherence
  • Visual Acuity

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!

Choose Username:
Verify Password: