The oxygen dependency of CXL shown here raises concerns about the effectiveness of high-fluence and transepithelial CXL. Both methods were introduced to clinical ophthalmology without thorough validation.

No abstract

Our results demonstrated a significant association between CSCR and single nucleotide polymorphisms in the CFH gene (rs3753394, rs1329428, and rs1065489), suggesting that disturbances in choroidal vasculature, through intercorrelation with adrenomedullin, play a significant role in CSCR pathogenesis.

IntroductionKeratoconus (KC) is a complex, genetically heterogeneous, multifactorial degenerative disorder that is accompanied by corneal ectasia which usually progresses asymmetrically. With an incidence of approximately 1 per 2000 and 2 cases per 100,000 population presenting annually, KC follows an autosomal recessive or dominant pattern of inheritance and is, apparently, associated with genes that interact with environmental, genetic, and/or other factors. This is an important consideration in refractive surgery in the case of familial KC, given the association of KC with other genetic disorders and the imbalance between dizygotic twins. The present review attempts to identify the genetic loci contributing to the different KC clinical presentations and relate them to the common genetically determined comorbidities associated with KC.MethodsThe PubMed, MEDLINE, Google Scholar, and GeneCards databases were screened for KC-related articles published in English between January 2006 and November 2017. Keyword combinations of “keratoconus,” “risk factor(s),” “genetics,” “genes,” “genetic association(s),” and “cornea” were used. In total, 217 articles were retrieved and analyzed, with greater weight placed on the more recent literature. Further bibliographic research based on the 217 articles revealed another 124 relevant articles that were included in this review. Using the reviewed literature, an attempt was made to correlate genes and genetic risk factors with KC characteristics and genetically related comorbidities associated with KC based on genome-wide association studies, family-based linkage analysis, and candidate-gene approaches.ResultsAn association matrix between known KC-related genes and KC symptoms and/or clinical signs together with an association matrix between identified KC genes and genetically related KC comorbidities/syndromes were constructed.ConclusionTwenty-four genes were identified as potential contributors to KC and 49 KC-related comorbidities/syndromes were found. More than 85% of the known KC-related genes are involved in glaucoma, Down syndrome, connective tissue disorders, endothelial dystrophy, posterior polymorphous corneal dystrophy, and cataract.

Keratoconus is a bilateral non-inflammatory corneal ectasia with an incidence of approximately 1 per 2000 in the general population. The etiology of keratoconus is multifactorial, although not completely understood. Several clinical observations suggest that thyroid gland dysfunction is associated with keratoconus pathophysiology. Pregnancy represents a major alteration in the maternal endocrinologic status characterized by modified function of the thyroid gland. We report on a 33-yr-old pregnant women suffering from keratoconus, who presented simultaneously with a remarkable deterioration of the disease during gestation and with thyroid gland dysfunction. Acute keratoconus in this patients coincided with the lowest plasma T4 level reached during pregnancy. During the third trimester of gestation, the keratoconus receded significantly. Here we provide direct evidence in support of a possible linkage between keratoconus and thyroid gland dysfunction, assumed by previous clinical observations. This case report is the first to suggest that changes in maternal thyroid hormone levels during pregnancy can aggravate the progression of keratoconus.

ABSTRACT.Purpose: The aim of our study was to investigate the biomechanical properties of the cornea in primary congenital glaucoma (PCG) and to identify the potential ocular determinants, which affect the corneal biomechanical metrics.

Mucous membrane pemphigoid (MMP) is a systemic cicatrizing autoimmune disease that primarily affects orificial mucous membranes, such as the conjunctiva, the nasal cavity, the oropharynx, and the genitalia. Ocular involvement occurs in about 70% of all MMP cases. Ocular MMP (OcMMP) also encompasses the conditions linear immunoglobulin A disease, mucosal dominated epidermolysis bullosa acquisita, and anti-laminin 332/anti-epiligrin/anti-laminin 5 pemphigoid. It is a complex clinical entity that may lead to ocular surface failure and result in inflammatory and infectious complications, as well as potentially devastating visual loss. Early diagnosis and appropriate treatment are of paramount importance and require a high level of expertise as this condition can be extremely challenging to diagnose and treat even for experienced clinicians. In this review we provide an up-to-date insight on the pathophysiology of OcMMP, with an emphasis on the current state of its diagnostics and therapeutics. Our the aim is to increase our understanding of OcMMP and highlight modern diagnostic and therapeutic options.

Our data implicate a crucial role of T4 in KC pathophysiology, which is most likely mediated by T4Rs.