A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.

Purpose: To investigate the distribution of genotypes and natural history of ABCA4-associated retinal disease in a large cohort of patients seen at a single institution.

Design: Retrospective, single-institution cohort review.

Participants: Patients seen at the University of Iowa between November 1986 and August 2022 clinically suspected to have disease caused by sequence variations in ABCA4.

Density and distribution of dendritiform cells in the peripheral cornea of healthy subjects using in vivo confocal microscopy.

Purpose: To establish in a large healthy cohort, dendritiform cell (DC) density and morphological parameters in the central and peripheral cornea using in vivo confocal microscopy (IVCM).

Methods: A prospective, cross-sectional, observational study was conducted in 85 healthy volunteers (n = 85 eyes). IVCM images of corneal center and four peripheral zones were analyzed for DC density and morphology to compare means and assess correlations (p < 0.

Relationships of retinal structure and humphrey 24-2 visual field thresholds in patients with glaucoma.

Purpose: To determine relationships between spectral-domain optical coherence tomography (SD-OCT) derived regional damage to the retinal ganglion cell-axonal complex (RGC-AC) and visual thresholds for each location of the Humphrey 24-2 visual field, in all stages of open-angle glaucoma.

Methods: Patients with early, moderate, and advanced glaucoma were recruited from a tertiary glaucoma clinic. Humphrey 24-2 and 9-field Spectralis SD-OCT were acquired for each subject.

Human photoreceptor outer segments shorten during light adaptation.

Purpose: Best disease is a macular dystrophy caused by mutations in the BEST1 gene. Affected individuals exhibit a reduced electro-oculographic (EOG) response to changes in light exposure and have significantly longer outer segments (OS) than age-matched controls. The purpose of this study was to investigate the anatomical changes in the outer retina during dark and light adaptation in unaffected and Best disease subjects, and to compare these changes to the EOG.