Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …

Adaptive optics scanning light ophthalmoscopy (AOSLO) allows visualization of the living
human retina with exquisite single-cell resolution. This technology has improved our …

Retinal gene therapy is increasingly recognized as a novel molecular intervention that has
huge potential in treating common causes of blindness, the majority of which have a genetic …

Importance Choroideremia (CHM) is a rare, degenerative, genetic retinal disorder resulting
from mutation of theCHMgene, leading to an absence of functional ras-associated binding …

Choroideremia is an X-linked inherited chorioretinal dystrophy leading to blindness by late
adulthood. Choroideremia is caused by mutations in the CHM gene which encodes Rab …

Inherited retinal diseases (IRDs) are a group of rare, heterogenous eye disorders caused by
gene mutations that result in degeneration of the retina. There are currently limited treatment …

Optical coherence tomography (OCT) allows noninvasive visualization of individual retinal
layers and has become a mainstay in the diagnosis and management of a wide range of …

Choroideremia is an X-linked retinal degeneration resulting from the progressive, centripetal
loss of photoreceptors and choriocapillaris, secondary to the degeneration of the retinal …

Retinal dystrophies (RDs) comprise relatively rare but devastating causes of progressive
vision loss. They represent a spectrum of diseases with marked genetic and clinical …

Purpose To determine a reliable method of using the ellipsoid zone (EZ) on optical
coherence tomography (OCT) to track disease progression in Stardgardt disease (STGD) …