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Clinical Insights Into Foveal Morphology in Albinism.
J Pediatr Ophthalmol Strabismus. 2015 May-Jun; 52(3):167-72.JP

Abstract

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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26053207

Citation

McCafferty, Brandon K., et al. "Clinical Insights Into Foveal Morphology in Albinism." Journal of Pediatric Ophthalmology and Strabismus, vol. 52, no. 3, 2015, pp. 167-72.
McCafferty BK, Wilk MA, McAllister JT, et al. Clinical Insights Into Foveal Morphology in Albinism. J Pediatr Ophthalmol Strabismus. 2015;52(3):167-72.
McCafferty, B. K., Wilk, M. A., McAllister, J. T., Stepien, K. E., Dubis, A. M., Brilliant, M. H., Anderson, J. L., Carroll, J., & Summers, C. G. (2015). Clinical Insights Into Foveal Morphology in Albinism. Journal of Pediatric Ophthalmology and Strabismus, 52(3), 167-72. https://doi.org/10.3928/01913913-20150427-06
McCafferty BK, et al. Clinical Insights Into Foveal Morphology in Albinism. J Pediatr Ophthalmol Strabismus. 2015 May-Jun;52(3):167-72. PubMed PMID: 26053207.
* Article titles in AMA citation format should be in sentence-case
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, PY - 2014/06/21/received PY - 2015/01/13/accepted PY - 2015/6/9/entrez PY - 2015/6/9/pubmed PY - 2016/1/30/medline SP - 167 EP - 72 JF - Journal of pediatric ophthalmology and strabismus JO - J Pediatr Ophthalmol Strabismus VL - 52 IS - 3 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. SN - 1938-2405 UR - https://www.unboundmedicine.com/medline/citation/26053207/Clinical_Insights_Into_Foveal_Morphology_in_Albinism_ L2 - https://www.healio.com/doiresolver?doi=10.3928/01913913-20150427-06 DB - PRIME DP - Unbound Medicine ER -