Clinical Insights Into Foveal Morphology in Albinism.

Kimberly Stepien // Publications // Nov 01 2023

PubMed ID: 26053207

Author(s): McCafferty BK, Wilk MA, McAllister JT, Stepien KE, Dubis AM, Brilliant MH, Anderson JL, Carroll J, Summers CG. Clinical insights into foveal morphology in albinism. J Pediatr Ophthalmol Strabismus. 2015 May-Jun;52(3):167-72. doi: 10.3928/01913913-20150427-06. PMID 26053207

Journal: Journal Of Pediatric Ophthalmology And Strabismus, Volume 52, Issue 3, 2015

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.

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