Deep Phenotyping of PDE6C-Associated Achromatopsia.

ABSTRACT:

Purpose

To perform deep phenotyping of subjects with PDE6C achromatopsia and examine disease natural history.

Methods

Eight subjects with disease-causing variants in PDE6C were assessed in detail, including clinical phenotype, best-corrected visual acuity, fundus autofluorescence, and optical coherence tomography. Six subjects also had confocal and nonconfocal adaptive optics scanning light ophthalmoscopy, axial length, international standard pattern and full-field electroretinography (ERG), short-wavelength flash (S-cone) ERGs, and color vision testing.

Results

All subjects presented with early-onset nystagmus, decreased best-corrected visual acuity, light sensitivity, and severe color vision loss, and five of them had high myopia. We identified three novel disease-c

SUBMITTER: Georgiou M 

PROVIDER: S-EPMC6905659 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature