Clinical Insights Into Foveal Morphology in Albinism. J Pediatr Ophthalmol Strabismus 2015;52(3):167-72
Date
06/09/2015Pubmed ID
26053207Pubmed Central ID
PMC4948980DOI
10.3928/01913913-20150427-06Scopus ID
2-s2.0-84948736602 (requires institutional sign-in at Scopus site) 35 CitationsAbstract
PURPOSE: A hallmark of albinism is foveal hypoplasia. However, literature suggests variable foveal development. This study evaluates the association between ocular phenotype and foveal morphology to demonstrate the broad structural and functional spectrum.
METHODS: Best-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism. Spectral-domain optical coherence tomography provided macular images.
RESULTS: The clinical phenotype was broad, with BCVA varying from 20/20 to 20/100. Better BCVA was associated with a preserved foveal avascular zone, annular macular reflex, stereoacuity, and macular melanin. Imaging demonstrated a continuum of foveal development correlating with BCVA. Individuals with a rudimentary pit had normal inner and outer segment lengthening and better BCVA.
CONCLUSIONS: The spectrum of ocular structure and visual function in albinism is broad, suggesting a possible diagnosis of albinism in a patient with an even more normal clinical presentation.
Author List
McCafferty BK, Wilk MA, McAllister JT, Stepien KE, Dubis AM, Brilliant MH, Anderson JL, Carroll J, Summers CGAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged, 80 and over
Albinism, Ocular
Albinism, Oculocutaneous
Child
DNA Mutational Analysis
Depth Perception
Evoked Potentials, Visual
Eye Abnormalities
Eye Proteins
Female
Fovea Centralis
Humans
Male
Membrane Proteins
Nystagmus, Pathologic
Phenotype
Polymerase Chain Reaction
Prospective Studies
Tomography, Optical Coherence
Visual Acuity
Young Adult
