Faculty Collaboration Database

Relationship between foveal cone specialization and pit morphology in albinism. Invest Ophthalmol Vis Sci 2014 May 20;55(7):4186-98

Date

05/23/2014

Pubmed ID

24845642

Pubmed Central ID

PMC4098060

DOI

10.1167/iovs.13-13217

Scopus ID

2-s2.0-84904346942 (requires institutional sign-in at Scopus site)   108 Citations

Abstract

PURPOSE: Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism.

METHODS: We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 subjects, and known albinism genes were analyzed for mutations. Relative inner and outer segment (IS and OS) lengthening (fovea-to-perifovea ratio) was determined from manually segmented spectral domain-optical coherence tomography (SD-OCT) B-scans. Foveal pit morphology was quantified for eight subjects from macular SD-OCT volumes. Ten subjects underwent imaging with adaptive optics scanning light ophthalmoscopy (AOSLO), and cone density was measured.

RESULTS: We found mutations in 22 of 25 subjects, including five novel mutations. All subjects lacked complete excavation of inner retinal layers at the fovea, though four subjects had foveal pits with normal diameter and/or volume. Peak cone density and OS lengthening were variable and overlapped with that observed in normal controls. A fifth hyper-reflective band was observed in the outer retina on SD-OCT in the majority of the subjects with albinism.

CONCLUSIONS: Foveal cone specialization and pit morphology vary greatly in albinism. Normal cone packing was observed in the absence of a foveal pit, suggesting a pit is not required for packing to occur. The degree to which retinal anatomy correlates with genotype or visual function remains unclear, and future examination of larger patient groups will provide important insight on this issue.

Author List

Wilk MA, McAllister JT, Cooper RF, Dubis AM, Patitucci TN, Summerfelt P, Anderson JL, Stepien KE, Costakos DM, Connor TB Jr, Wirostko WJ, Chiang PW, Dubra A, Curcio CA, Brilliant MH, Summers CG, Carroll J

Authors

Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin
Thomas B. Connor MD Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin
Robert F. Cooper Ph.D Assistant Professor in the Biomedical Engineering department at Marquette University
Deborah M. Costakos MD Chair, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin
Teresa Patitucci PhD Associate Professor in the Cell Biology, Neurobiology and Anatomy department at Medical College of Wisconsin
William Wirostko MD Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Aged
Aged, 80 and over
Albinism, Oculocutaneous
Cell Count
Child
DNA
Electroretinography
Eye Proteins
Female
Fovea Centralis
Genetic Testing
Humans
Male
Middle Aged
Mutation
Ophthalmoscopy
Retinal Cone Photoreceptor Cells
Tomography, Optical Coherence
Visual Acuity
Young Adult