Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial.

Purpose: Blue cone monochromacy (BCM), a congenital X-linked retinal disease caused by mutations in the gene cluster, is under consideration for intravitreal gene therapy. Difficulties with near vision tasks experienced by these patients prompted this study of reading performance as a potential outcome measure for a future clinical trial.

Methods: Clinically and molecularly diagnosed patients with BCM ( = 17; ages 15-63 years) and subjects with normal vision ( = 22; ages 18-72 years) were examined with the MNREAD acuity chart for both uniocular and binocular conditions.

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

Mutations in the (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure.

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.

Purpose: Pupillary light reflex (PLR) is driven by outer retinal photoreceptors and by melanopsin-expressing intrinsically photosensitive retinal ganglion cells of the inner retina. To isolate the melanopic component, we studied patients with severe vision loss due to Leber congenital amaurosis (LCA) caused by gene mutations acting on the outer retina.

Methods: Direct PLR was recorded in LCA patients (n = 21) with known molecular causation and severe vision loss.

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.

Purpose: Previously, patients with RHO mutations and a class A phenotype were found to have severe early-onset loss of rod function, whereas patients with a class B phenotype retained rod function at least in certain retinal regions. Here class B patients were studied at different disease stages to understand the topographic details of the phenotype in preparation for therapies of this regionalized retinopathy.

Methods: A cohort of patients with RHO mutations and class B phenotype (n = 28; ages 10-80 years) were studied with rod and cone perimetry and optical coherence tomography (OCT).

Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.

Purpose: To study transition zones from normal to abnormal retina in Usher syndrome IB (USH1B) caused by myosin 7A (MYO7A) mutations.

Methods: Optical coherence tomography (OCT) scattering layers in outer retina were segmented in patients (n = 16, ages 2-42; eight patients had serial data, average interval 4.5 years) to quantify outer nuclear layer (ONL) and outer segments (OS) as well as the locus of EZ (ellipsoid zone) edge and its extent from the fovea.

Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials.

Purpose: The purpose of this study was to develop a convenient means to measure rod (and cone) function by automated perimetry in patients with inherited retinal degenerations (IRDs).

Methods: A currently available automated perimeter was used to determine sensitivity (in decibels) to a blue target in the dark-adapted (DA) state and a white target in the light-adapted (LA) state. Normal subjects and IRD patients were evaluated with a full-threshold 71-locus strategy (the retinitis pigmentosa [RP] test) and a size III target.

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Charcot-Marie-Tooth disease type 2D (CMT2D) is an autosomal-dominant axonal peripheral neuropathy characterized by impaired motor and sensory function in the distal extremities. Mutations in the glycyl-tRNA synthetase (GARS) gene cause CMT2D. GARS is a member of the ubiquitously expressed aminoacyl-tRNA synthetase (ARS) family and is responsible for charging tRNA with glycine.

Demand for HIV clinical services is increasing in Australia but supply is decreasing.

Background: HIV clinical service planning requires accurate estimates of the number of people living with HIV (PLHIV) and the capacity of existing clinical services, each by geographical location. The aim of this study was to quantify current HIV clinical service capacity in Australia.

Methods: This study was a retrospective analysis of records of HIV clinical service capacity in Australia.