Intermittent compression of the PIN within and just distal to the anatomic region known as
the radial tunnel is responsible for a constellation of signs and symptoms known as radial …

Endoplasmic reticulum (ER) stress and Unfolded Protein Response (UPR) signaling promote
the pathology of many human diseases. Loss-of-function variants of the UPR regulator …

Purpose: Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3,
CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be identified, …

Acute athletic injuries to the hand and wrist encompass a wide spectrum ranging from simple
sprains to severe fractures or soft-tissue disruptions that can permanently threaten the …

Purpose: To determine the interocular symmetry of foveal cone topography in achromatopsia
(ACHM) using non-confocal split-detection adaptive optics scanning light ophthalmoscopy (…

Purpose: Congenital red-green (RG) color vision deficiency (CVD) is an X-linked condition
affecting approximately one in twelve males. The aim of this study was to use the Color …

Achromatopsia (ACHM) is an autosomal recessive disease that results in severe visual loss.
Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting …

Purpose: The purpose of this study was to characterize foveal pit morphology in an African (Ghanaian)
population, to compare it to that of a Caucasian group and to determine if it varied …

Methods: We used adaptive optics scanning light ophthalmoscopy to acquire images of the
foveal cone mosaic in each eye of 58 subjects with normal vision (35 female, 23 male). …

Purpose: We examine the interocular symmetry of foveal outer nuclear layer (ONL) thickness
measurements in subjects with achromatopsia (ACHM). Methods: Images from 76 subjects …