Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes.

Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encompass assessments of best-corrected visual acuity, fundoscopy, optical coherence tomography, fundus autofluorescence, fluorescein angiography, electrophysiological tests, and genetic testing.

[Ocular manifestations in hereditary diseases with defects in DNA repair].

DNA repair is involved in maintaining the stability of the genome and accurate sending of genetic information. DNA repair pathways remove many DNA damages induced by endo- and exogenous factors. There are several DNA repair pathways in human cells, including base or nucleotide excision system, homologous recombination system and non-homologous end joining.

Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His MUTYH gene polymorphisms with clinical parameters and the risk for development of primary open-angle glaucoma.

Background: Numerous data have shown that progressive loss of human trabecular meshwork (TM) cells may be connected with oxidative stress. This hypothesis may suggest an association of base excision repair with the risk of primary open angle glaucoma development.

Purpose: The aim of this study was to evaluate the role of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326SerCys OGG1, and the 324Gln/His MUTYH gene polymorphisms with clinical parameters and the risk for development of POAG.

[Oxidative stress in the pathogenesis of Fuchs endothelial corneal dystrophy].

Fuchs endothelial corneal dystrophy is a disease which occurs after the fourth decade of life. This disorder is characterized by the formation of excrescences growing from the Descemet membrane, called cormea guttata, and changes in the corneal en- dothelial cell density and morphology. The pathogenesis of Fuchs endothelial corneal dystrophy is not completely known.

[Oxidative stress in the pathogenesis of keratoconus].

Keratoconus is a non-inflammatory corneal disease, which involves changes of the corneal shape, due to thinning of the corneal stroma. The pathogenesis of this disease has remained unclear, but results of many studies indicate that keratoconus is a multifactorial disease. It is hypothesized, that this disorder is associated with both genetic and environmental factors.

Association of MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms with risk of primary open angle glaucoma in a Polish population.

Background: Primary open angle glaucoma (POAG) is considered to be a leading cause of irreversible blindness worldwide. Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) have been extensively studied as POAG risk factors. Recently, several single-nucleotide polymorphisms (SNPs) for MMPs and TIMPs encoding genes have been reported in POAG patients.

Evaluation of oxidative stress markers in pathogenesis of primary open-angle glaucoma.

Primary open-angle glaucoma (POAG) is the leading cause of blindness in the industrial countries. It is reported that oxidative stress might be an important risk factor in the pathogenesis of POAG. Forty subjects including 20 patients with open-angle glaucoma (9 men and 12 women, mean age 61.

[Pseudoexfoliation syndrome (PEX)--a systemic disorder].

Pseudoexfoliation syndrome is an age-related elastosis. The current pathogenetic concept describes PEX as an elastic microfibrillopathy involving TGF-betal, oxidative stress and impaired cellular protection mechanisms as a key pathogenetic factors. Extracellular PEX material is produced, aggregated and accumulated in the anterior segment of the eye.