PERSISTENT PLACOID MACULOPATHY-LIKE FINDINGS IN PATIENTS WITH GIANT CELL ARTERITIS.

Purpose: To describe two patients with giant cell arteritis who presented with macular lesions mimicking persistent placoid maculopathy.

Methods: Retrospective case reports.

Patient: Two patients, a 74-year-old man and an 85-year-old woman both were diagnosed with biopsy-confirmed giant cell arteritis with vision loss in one eye due to arteritic ischemic optic neuropathy.

Searching for novel biomarkers using a mouse model of CLN3-Batten disease.

CLN3-Batten disease is a rare, autosomal recessive disorder involving seizures, visual, motor and cognitive decline, and premature death. The Cln3Δex7/8 mouse model recapitulates several phenotypic characteristics of the most common 1.02kb disease-associated deletion.

Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease.

Ataxia telangiectasia (AT) is a progressive multisystem autosomal recessive disorder caused by mutations in the AT-mutated (ATM) gene. Early onset AT in children is characterized by cerebellar degeneration, leading to motor impairment. Lung disease and cancer are the two most common causes of death in AT patients.

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.

Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported.

A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.

The Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, result from mutations in over a dozen genes. Although, adults are susceptible, the NCLs are frequently classified as pediatric neurodegenerative diseases due to their greater pediatric prevalence. Initial clinical presentation usually consists of either seizures or retinopathy but develops to encompass both in conjunction with declining motor and cognitive function.

Macular edema is a rare finding in untreated vitreoretinal lymphoma: small case series and review of the literature.

Background: To determine the occurrence of macular edema (ME) in vitreoretinal lymphoma (VRL).

Methods: Retrospective analysis of 17 patients (31 eyes) with VRL. A review of the literature was done as well.

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.

The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. Clinically, the diseases are subcategorized into infantile, late-infantile, juvenile and adult forms based on their age of onset.

Plasma biomarkers for neuronal ceroid lipofuscinosis.

The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative genetic diseases that primarily affect children and have no known cure. A unified clinical rating scale for the juvenile form of NCL has been developed, although it has not been validated in other subtypes and does not give a true measure of the pathophysiological changes occurring during disease progression. In the present study, we have identified candidate biomarkers in blood plasma of NCL disease using multiple proteomic approaches, with the aim of developing a panel of biomarkers that could serve as a metric for therapeutic response.

Pars plana vitrectomy without adjuvant procedures for repair of primary rhegmatogenous retinal detachment.

Purpose: To evaluate the anatomical and functional outcomes of pars plana vitrectomy without adjuvant scleral buckling, prophylactic 360° endolaser photocoagulation, or perfluorocarbon liquid use for the treatment of primary uncomplicated rhegmatogenous retinal detachment.

Methods: Retrospective interventional case series of consecutive patients undergoing vitrectomy for noncomplex rhegmatogenous retinal detachment over a 10-year period. Main outcome measures included primary anatomical success rate, defined as retinal reattachment at final follow-up after a single operation, proportion of eyes achieving a final best-corrected visual acuity ≤ logarithm of the minimum angle of resolution 0.

Superficial retinal precipitates in patients with syphilitic retinitis.

Purpose: The purpose of this study was to describe the occurrence of superficial retinal precipitates in patients with syphilitic retinitis.

Methods: This was a retrospective, observational case series of nine eyes of eight patients with syphilitic retinitis associated with superficial retinal precipitates. The clinical, photographic, angiographic, and laboratory records were reviewed.

Sequential CaCl2, polyethylene glycol precipitation for RNase-free plasmid DNA isolation.

Functional genomics is facilitated by the ability to express genes in heterologous systems. In some cases function can be assayed by generation of in vitro transcripts of the unknown genes and expressing those transcripts in various expression systems. Plasmids bearing phage promoters are used to generate in vitro transcripts.

Brimonidine evokes heterogeneous vasomotor response of retinal arterioles: diminished nitric oxide-mediated vasodilation when size goes small.

Brimonidine, an alpha2-adrenergic receptor (AR) agonist, has been employed in the treatment of glaucoma due to its beneficial effects on intraocular pressure reduction and neuroprotection. In addition, some studies have implicated that brimonidine might influence ocular blood flow; however, its effect on the retinal microcirculation has not been documented. Herein, we examined the vasomotor action of brimonidine on different branching orders of retinal arterioles in vitro and determined the contribution of the alpha2-AR subtype and the role of endothelium-derived nitric oxide (NO) in this vasomotor response.