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Integrity of the cone photoreceptor mosaic in oligocone trichromacy.

Authors
Type
Published Article
Journal
Investigative Ophthalmology & Visual Science
0146-0404
Publisher
Association for Research in Vision and Opthalmology
Publication Date
Volume
52
Issue
7
Pages
4757–4764
Identifiers
DOI: 10.1167/iovs.10-6659
PMID: 21436275
Source
Medline

Abstract

Findings are consistent with the visual deficits being caused by a reduced number of healthy cones in the two brothers and the adult female. In the unrelated adult subject, no structural basis for the disorder was found. These data suggest two distinct groups on the basis of structural imaging. It is proposed that the former group with evidence of a reduction in cone numbers is more in keeping with typical OT, with the latter group representing an OT-like phenotype. These two groups may be difficult to readily discern on the basis of phenotypic features alone, and high-resolution imaging may be an effective way to distinguish between these phenotypes.

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