The retinal phenotype in primary hyperoxaluria type 2 and 3.

Background: The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, primarily the kidneys, bones, heart, and eyes. Vision loss induced by severe retinal deposits is commonly seen in infantile PH1; less frequently and milder retinal alterations are found in non-infantile PH1.

X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.

Purpose: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).

Design: Retrospective cohort study.

Participants: Three hundred forty patients with XLRS from 178 presumably unrelated families.

The Ocular Phenotype in Primary Hyperoxaluria Type 1.

Purpose: To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity.

Design: Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network.

Methods: Sixty-eight patients with PH1 were included.

Incidence of redetachment 6 months after scleral buckling surgery.

Purpose: The preoperative and intraoperative clinical variables associated with redetachment and/or a poor visual outcome following scleral buckling (SB) surgery for rhegmatogenous retinal detachment (RRD) have mainly been studied after a short follow-up. This study aimed to analyse long-term effects by following patients for at least 6 months.

Methods: In a retrospective survey we evaluated the data of 436 eyes that underwent SB surgery.

Two autocrine pathways to regulate cyclic GMP synthesis in cultured human retinal pigment epithelial cells.

Aim: To investigate the role of two separate enzymatic pathways [soluble (sGC) vs. particulate (pGC) guanylyl cyclase] in the synthesis of cyclic GMP (cGMP) in cultured human retinal pigment epithelial (RPE) cells.

Methods: cGMP accumulation was evaluated by quantitative analysis of cGMP immunoreactivity.

Cyclic GMP in the pig vitreous and retina after experimental retinal detachment.

Purpose: Earlier studies have revealed a decreased level of cGMP in vitreous fluid obtained from patients with a retinal detachment. To further investigate this phenomenon, we developed an experimental retinal detachment model in pigs.

Methods: Experimental unilateral retinal detachments were induced in pig eyes by subretinal injection of 0.

Balance of vascular endothelial growth factor and pigment epithelial growth factor prior to development of proliferative vitreoretinopathy.

Background: Pigment epithelium-derived factor (PEDF) and vascular endothelial growth factor (VEGF) are imbalanced in eyes with proliferative diabetic retinopathy or proliferative vitreoretinopathy (PVR). It is not known whether such an imbalance is already present in early PVR stages. We therefore analyzed VEGF and PEDF concentrations in subretinal fluids prior to PVR development.

Cyclic GMP synthesis by human retinal pigment epithelial cells is mainly mediated via the particulate guanylyl cyclase pathway.

Background/aims: Cyclic 3',5'-guanosine monophosphate (cGMP), a central molecule in the phototransduction cascade, is also involved in a number of other physiological processes in the retina, like stimulating the absorption of subretinal fluid by activating the retinal pigment epithelium (RPE) cell pump. The aim of this study was to quantify cGMP synthesis by RPE cells and to investigate the role of two separate enzymatic pathways (soluble versus particulate guanylyl cyclase) in its production.

Methods: cGMP expression was evaluated by immunochemistry and radioimmunoassay following culture of the D407 RPE cell line in the presence of a nonselective phosphodiesterase inhibitor (IBMX), in combination with the particulate guanylyl cyclase stimulator atrial natriuretic peptide (ANP) or the soluble guanylyl cyclase stimulator sodium nitroprusside (SNP).

Reexamining the hyperglycemic pseudohypoxia hypothesis of diabetic oculopathy.

Purpose: To test the hypothesis that diabetes alters retinal NAD+-to-NADH ratios early in the course of the disease (e.g., the hyperglycemic pseudohypoxia hypothesis).

Increased glutamate levels in the vitreous of patients with retinal detachment.

Experimental models have implicated glutamate in the irreversible damage to retinal cells following retinal detachment. In this retrospective study we investigated a possible role for glutamate and other amino acid neurotransmitters during clinical rhegmatogenous retinal detachment (RRD). Undiluted vitreous samples were obtained from 176 patients undergoing pars plana vitrectomy.

Immunohistochemical analysis of the internal limiting membrane peeled with infracyanine green.

Purpose: To investigate whether the peeled internal limiting membrane (ILM) contains cellular retinal cell fragments, and to learn more about their possible origin.

Design: Experimental study.

Methods: ILM peeled from ten eyes during vitrectomy by infracyanine green (ICG) was studied immunohistochemically using the markers: GFAP, S-100, and vimentin.

Increased nitric oxide (NO) pathway metabolites in the vitreous fluid of patients with rhegmatogenous retinal detachment or diabetic traction retinal detachment.

Background: Nitric oxide (NO) plays a significant role in physiological and pathological processes in the retina. In the L-arginine-NO pathway, NO synthase (NOS) converts L-arginine to NO and L-citrulline. Increased NO production, mediated by inducible NOS has been implicated in the pathogenesis of various vitreoretinal diseases.