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.

Macular edema (ME) represents the most common cause for visual loss among uveitis patients. The management of uveitic macular edema (UME) may be challenging, due to its often recalcitrant nature. Corticosteroids remain the mainstay of treatment, through their capability of effectively controlling inflammation and the associated ME. Topical steroids may be effective in milder cases of UME, particularly in edema associated with anterior uveitis. Posterior sub-Tenon and orbital floor steroids, as well as intravitreal steroids often induce rapid regression of UME, although this may be followed by recurrence of the pathology. Intra-vitreal corticosteroid implants provide sustained release of steroids facilitating regression of ME with less frequent injections. Topical nonsteroidal anti-inflammatory drugs may provide a safe alternative or adjuvant therapy to topical steroids in mild UME, predominantly in cases with underlying anterior uveitis. Immunomodulators including methotrexate, mycophenolate mofetil, tacrolimus, azathioprine, and cyclosporine, as well as biologic agents, notably the anti-tumor necrosis factor-α monoclonal antibodies adalimumab and infliximab, may accomplish the control of inflammation and associated ME in refractory cases, or enable the tapering of steroids. Newer biotherapies have demonstrated promising outcomes and may be considered in persisting cases of UME.

In the absence of severe mental retardation, CP children have deficient visual skills. It is suggested that the poor visual skills of CP children are a separate, identifiable factor compounding the adverse effects of mental retardation.

Background:Keratoconus is a chronic, bilateral, usuallly asymmetrical, non-inflammatory, ectatic disorder, being characterized by progressive steepening, thinning and apical scarring of the cornea. Initially, the patient is asymptomatic, but the visual acuity gradually decreases, resulting in significant vision loss due to the development of irregular astigmatism, myopia, corneal thinning and scarring. The classic treatment of visual rehabilitation in keratoconus is based on spectacles and contact lenses (CLs).Objective:To summarize the types of CLs used in the treatment of keratoconus. This is literature review of several important published articles focusing on the visual rehabilitation in keratoconus with CLs.Method:Gas permeable (GP) CLs have been found to achieve better best corrected visual acuity than spectacles, eliminating 3rd-order coma root-mean-square (RMS) error, 3rd-order RMS, and higher-order RMS. However, they have implicated in reduction of corneal basal epithelial cell and anterior stromal keratocyte densities. Soft CLs seem to provide greater comfort and lower cost, but the low oxygen permeability (if the lens is not a silicone hydrogel), and the inability to mask moderate to severe irregular astigmatism are the main disadvantages of them. On the other hand, scleral CLs ensure stable platforms, which eliminate high-order aberrations and provide good centration and visual acuity. Their main disadvantages include the difficulties in application and removal of these lenses along with corneal flattening and swelling.Result:The modern hybrid CLs are indicated in cases of poor centration, poor stability or intolerance with GP lenses. Finally, piggyback CL systems effectively ameliorate visual acuity, but they have been related to corneal neovascularization and giant papillary conjunctivitis.Conclusion:CLs seem to rehabilitate visual performance, diminishing the power of the cylinder and the high-order aberrations. The final choice of CLs is based on their special features, the subsequent corneal changes and the patient’s needs.

AD was safe and efficacious during the study period in the majority of patients. However, vigilance is required for the early detection of severe and potentially fatal infections. AD may control recurrent uveitis and radiological progression.