BACKGROUND AND PURPOSE:Neuropathologic studies in experimental and human glaucoma have demonstrated degenerative changes in the optic pathway. The purpose of this study was to assess the optic pathway in POAG by using VBM and DTI.

A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene. Heterozygous COL11A1 mutations were found in 10 individuals. A splice site alteration (involving introns 47-55) was present in seven cases, with one in intron 50 (c.3816 + 1G > A) occurring in three patients. Two patients had a different deletion, and a missense mutation (Gly1471Asp) was observed in one case. In 4/10 patients the phenotype was classified as Marshall syndrome because of early-onset severe hearing loss and characteristic facial features. These four patients were all heterozygous for a splice site mutation in intron 50. One of these cases had a type 1 vitreous anomaly despite the presence of a COL11A1 mutation. The remaining 6/10 patients had an overlapping Marshall-Stickler phenotype with less pronounced facial features. None of these had a mutation in the hot spot region of intron 50.

Oxidative stress refers to cellular or molecular damage caused by reactive oxygen species, which especially occurs in age-related conditions as a result of an imbalance between the production of reactive oxygen species and the antioxidant defense response. Dry age-related macular degeneration (AMD) and exfoliation syndrome (XFS) are two common and complex age-related conditions that can cause irreversible vision loss. Two subtypes of AMD, which is the leading cause of blindness in the Western world, exist: the most prevalent dry type and the most severe wet type. Early dry AMD is characterized by formation of drusen, which are sub-retinal deposits, in the macular area and may progress to geographic atrophy with more dramatic manifestation. XFS is a systemic disorder of the extracellular matrix characterized by the accumulation of elastic fibrils that leads, in most cases, to glaucoma development with progressive and irreversible vision loss. Due to the aging population, the prevalence of these already-widespread conditions is increasing and is resulting in significant economic and psychological costs for individuals and for society. The exact composition of the abnormal drusen and XFS material as well as the mechanisms responsible for their production and accumulation still remain elusive, and consequently treatment for both diseases is lacking. However, recent epidemiologic, genetic and molecular studies support a major role for oxidative stress in both dry AMD and XFS development. Understanding the early molecular events in their pathogenesis and the exact role of oxidative stress may provide novel opportunities for therapeutic intervention for the prevention of progression to advanced disease.

BackgroundDiabetic retinopathy is a major cause of visual impairment and blindness among working-age people worldwide. The aim of our study was to investigate the effects of a carotenoid supplementation on retinal thickness and macular function of patients with diabetes using optical coherence tomography (OCT) and multifocal electroretinography (mfERG).MethodsA retrospective study of one hundred and twenty eyes of sixty patients age between 40 and 60 years with non-insulin dependent type 2 diabetes mellitus without diabetic retinopathy who underwent OCT and mfERG and took vitamin supplements for a period of two years. Patients received a carotenoid supplement containing lutein (10 mg), zeaxanthin (2 mg) and meso-zeaxanthin (10 mg) once a day for two years. The thickness of the fovea was evaluated using OCT and the macular function was tested by mfERG.ResultsOCT showed an increase in the central foveal thickness and mfERG revealed increased retinal response density within the central 13° surrounding the fovea (rings 1 to 3) at two years after the onset of carotenoids supplement intake.ConclusionThe use of carotenoid supplements may be of benefit for improving visual function of type 2 diabetes patients. However, further study is needed to assess the treatment’s long-term efficacy.

Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Differential chromosomal staining demonstrated an excess of genetic material on the long arm of the late replicating X chromosome. FISH and DNA polymorphism analysis showed that the extra material belonged to the distal part of the long arm of chromosome 17 and that there was a partial monosomy of the distal part of the long arm of the derivative X chromosome. The breakpoint regions of this translocation were identified by molecular analysis using polymorphic microsatellite markers on human chromosomes 17 and X. The origin of the abnormal X chromosome was found to be paternal, whereas the origin of the duplicated part of chromosome 17 was maternal. The unbalanced translocation between the paternal X and the maternal chromosome 17 is, therefore, suggested to be due to a postzygotic error.

Glaucoma, a leading cause of blindness worldwide, is currently defi ned as a disturbance of the structural or functional integrity of the optic nerve that causes characteristic atrophic changes in the optic nerve, which may lead to specifi c visual fi eld defects over time. This disturbance usually can be arrested or diminished by adequate lowering of intraocular pressure (IOP). Glaucoma can be divided roughly into two main categories, ' open angle ' and ' closed angle ' glaucoma. Open angle, chronic glaucoma tends to progress at a slower rate and patients may not notice loss of vision until the disease has progressed signifi cantly. Primary open angle glaucoma (POAG) is described distinctly as a multifactorial optic neuropathy that is chronic and progressive with a characteristic acquired loss of optic nerve fi bers. Such loss develops in the presence of open anterior chamber angles, characteristic visual fi eld abnormalities, and IOP that is too high for the healthy eye. It manifests by cupping and atrophy of the optic disc, in the absence of other known causes of glaucomatous disease. Several biological markers have been implicated with the disease. The purpose of this study was to summarize the current knowledge regarding the non-genetic molecular markers which have been predicted to have an association with POAG but have not yet been validated.

Neuropathological studies in experimental and human glaucoma have shown degenerative changes in the optic pathway. The purpose of the study was to evaluate, with conventional MRI and magnetisation transfer imaging, the brain and the optic pathway of patients with primary open-angle glaucoma (POAG). 26 patients, aged 67.4+/-8.6 years, and 26 control subjects were studied. The presence of white matter hyperintensities (WMH) was evaluated on fluid-attenuated inversion recovery images of the brain. The area of the optic nerves was assessed on coronal short tau inversion recovery images. Magnetisation transfer ratio (MTR) was measured in the chiasm and in the grey and white matter (CGM and CWM) of the calcarine fissure. More WMH were observed in patients (total 261, mean 10.8, standard deviation 12.7) than in control subjects (total 127, mean 4.7, standard deviation 5.7; p<0.001). The area (mm(2)) of optic nerves (10.7+/-5.7) and the MTR (%) of the chiasm (53.7+/-8.4), the CWM (60.9+/-4.2) and the CGM (53.6+/-5.6) were all lower in patients than in control subjects (13.6+/-4.3, 62.1+/-6.2, 67.6+/-8.6 and 57.0+/-4.6, respectively; p<0.05). The area of optic nerves showed significant correlation with the MTR of the chiasm (R = 0.41), the MTR of the CGM (R = 0.33), the MTR of the CWM (R = 0.34) and the cup to disc ratio (R = -0.46). POAG leads to optic nerve atrophy and degeneration of the optic pathway. The finding of an increase in the number of WMH suggests that cerebrovascular disease may play a role in the pathogenesis of POAG.

A potential association between Alzheimer’s disease (AD) and chronic glaucoma has been suggested but results of epidemiological studies have been inconsistent. Therefore, we performed a systematic review and critical appraisal of this literature. We searched systematically in PubMed from December 1964 to September 2013 and identified 239 articles potentially relevant for abstract and full-text review. Statistical heterogeneity (variability) across studies was evaluated using the Cochran Q test and the I2 statistic, and the Newcastle-Ottawa score was used to assess study quality. Ten studies were finally selected. Compared to non-demented participants, patients with AD had a statistically significant decreased risk of glaucoma but the results were very heterogeneous, and thus summary estimates were not reported (I2, 89%; Pheterogeneity, <0.001). The study results ranged from large positive relative risks identified in small and poorly-conducted studies to weak inverse associations or null estimates observed in some cohort and record-linkage studies, but the summary estimates were essentially driven by a large retrospective cohort using medical claims that may be afflicted by underdiagnosis bias. There was also evidence for substantial publication bias (Egger’s P≤0.01). The association of AD and glaucoma is heterogeneous and most studies are small and inadequately designed. Large prospective studies with long follow-ups are warranted to clarify this association.