High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration.

ABSTRACT:

Purpose

To describe the characteristics of MAK-related retinal degeneration using optical coherence tomography angiography (OCTA) and adaptive optics scanning laser ophthalmoscopy (AOSLO).

Design

Cross-sectional study.

Methods

Six patients with rod-cone degeneration and disease-causing mutations in MAK were evaluated with visual acuity, spectral-domain OCT, confocal AOSLO, and OCTA. Foveal avascular zone (FAZ) area, vessel densities, and perfusion densities of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) in the central macula in all 6 patients were compared with 5 normal subjects. Cone spacing was measured in 4 patients from AOSLO images and compared with 37 normal subjects.

Results

Patients ranged from 25 to 81 years of age (mean, 52

SUBMITTER: Lew YJ 

PROVIDER: S-EPMC5732075 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature