Regulation of retinal blood flow in health and disease

https://www.zora.uzh.ch/id/eprint/33361/3/Berger_et_al_The_molecular_basis_of_human_retinal_and_vitreoretinal_diseases_2010.pdf

The molecular basis of human retinal and vitreoretinal diseases.

In branch retinal vein occlusion (BRVO), abnormal arteriovenous crossing with vein compression, degenerative changes of the vessel wall and abnormal hematological factors constitute the primary mechanism of vessel occlusion. In general, BRVO has a good prognosis: 50–60% of eyes are reported to have a final visual acuity (VA) of 20/40 or better even without treatment. One important prognostic factor for final VA appears to be the initial VA. Grid laser photocoagulation is an established treatment for macular edema in a particular group of patients with BRVO, while promising results for this condition are shown by intravitreal application of steroids or new vascular endothelial growth factor inhibitors. Vitrectomy with or without arteriovenous sheathotomy combined with removal of the internal limiting membrane may improve vision in eyes with macular edema which are unresponsive to or ineligible for laser treatment.

https://www.tandfonline.com/doi/pdf/10.1080/02713680701851902

Branch retinal vein occlusion: pathogenesis, visual prognosis, and treatment modalities

This article reviews the typical presentations of branch and central retinal-vein occlusion and the strategies for their management, with particular attention to the roles of laser therapy, ophthalmic glucocorticoids, and anti-VEGF therapies.

https://www.nejm.org/doi/suppl/10.1056/NEJMcp1003934/suppl_file/nejmcp1003934_appendix.pdf

Retinal-Vein Occlusion

The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over the recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders.

https://bjo.bmj.com/content/bjophthalmol/100/1/115.full.pdf

The cone dysfunction syndromes

Pathophysiology and hemodynamics of branch retinal vein occlusion

Objectives To evaluate comorbidity before and after the diagnosis of branch retinal vein occlusion to determine whether it is a consequence of arterial thickening and therefore could serve as a diagnostic marker for other comorbidities and to evaluate the risk factors for the development of such occlusion.

https://www.bmj.com/content/bmj/345/bmj.e7885.full.pdf

Comorbidity in patients with branch retinal vein occlusion: case-control study

Mortality in Patients with Central Retinal Vein Occlusion

Mortality in patients with branch retinal vein occlusion.

Purpose To describe the phenotype and genotype of patients with a diagnosis of oligocone trichromacy (OT). Methods Six unrelated patients had a detailed ophthalmic examination including color vision testing, a Goldmann visual field test, fundus photography, and full-field electroretinography (ffERG). Five patients also underwent multifocal (mf)ERG, autofluorescence recording, and optical coherence tomography (OCT). Genetic analysis included sequencing of all coding regions and flanking introns of CNGA3, CNGB3, GNAT2, KCNV2, and PDE6C. Results All patients had subnormal visual acuity, a history of congenital nystagmus, and subjectively normal or near-normal color vision; five patients reported photophobia. Clinical examinations revealed largely normal fundi, normal Goldmann visual field results with the IV/4e target, and normal color discrimination or mild color vision deficiency. Electrophysiological investigations showed either complete absence of recordable cone responses or severely reduced amplitudes. All retinal layers were identifiable by OCT, which also showed thinning of the peripheral retina. Genetic analysis revealed two causative CNGB3 mutations in one patient and single heterozygous mutations of unknown significance in CNGB3 and PDE6C in two other patients. Conclusions Oligocone trichromacy is a heterogeneous condition with respect to both phenotypic appearance and genetic background. The finding of mutations in genes known to be involved in complete and incomplete achromatopsia supports the notion that some forms of OT is an extreme form of incomplete achromatopsia with preferential loss of peripheral cones.

Nynne Christoffersen

Papers

Pathophysiology and hemodynamics of branch retinal vein occlusion

Comorbidity in patients with branch retinal vein occlusion: case-control study

Mortality in Patients with Central Retinal Vein Occlusion

Mortality in patients with branch retinal vein occlusion.

Oligocone Trichromacy: Clinical and Molecular Genetic Investigations