Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.

ABSTRACT:

Purpose

To assess residual cone structure in subjects with mutations in exon 2, 3, and 4 of the OPN1LW or OPN1MW opsin.

Methods

Thirteen males had their OPN1LW/OPN1MW opsin genes characterized. The cone mosaic was imaged using both confocal and nonconfocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO), and retinal thickness was evaluated using optical coherence tomography (OCT). Six subjects completed serial imaging over a maximum period of 18 months and cone density was measured across imaging sessions.

Results

Ten subjects had an OPN1LW/OPN1MW "interchange" opsin mutation designated as LIAVA or LVAVA, which both introduce exon 3 splicing defects leading to a lack of functional photopigment in cones expressing LIAVA and greatly reduced functio

SUBMITTER: Patterson EJ 

PROVIDER: S-EPMC6103386 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature