TY - JOUR
T1 - Clinical insights into foveal morphology in albinism
AU - McCafferty, Brandon K.
AU - Wilk, Melissa A.
AU - McAllister, John T.
AU - Stepien, Kimberly E.
AU - Dubis, Adam M.
AU - Brilliant, Murray H.
AU - Anderson, Jennifer L.
AU - Carroll, Joseph
AU - Summers, C. Gail
N1 - Publisher Copyright:
© SLACK Incorporated.
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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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U2 - 10.3928/01913913-20150427-06
DO - 10.3928/01913913-20150427-06
M3 - Article
C2 - 26053207
AN - SCOPUS:84948736602
SN - 0191-3913
VL - 52
SP - 167
EP - 172
JO - Journal of Pediatric Ophthalmology and Strabismus
JF - Journal of Pediatric Ophthalmology and Strabismus
IS - 3
ER -