Biochemical and molecular alterations and potential clinical applications of biomarkers in keratoconus.

Keratoconus (KC) is a complex multifactorial corneal ectatic disorder, with disease onset commonly in the second-third decades significantly affecting quantity, quality of vision, and quality of life. Several pathways and factors such as eye rubbing, inflammatory, oxidative, metabolic, genetic, and hormonal among others have been studied in the last two decades. However, the management of KC is still based on a few "one-size fits all" approaches and is predominantly guided by topo/tomographic parameters. Consideration of the several novel factors which have the potential to be biomarkers in addressing several unanswered questions in the disease process could help in the better predictive ability of progression or vision loss and customization of treatment options. This article delves into the understanding of these novel factors or biomarkers based on the pathogenesis of KC and features a special focus on their potential clinical applications and their future role in personalized medicine.

Drug delivery systems and novel formulations to improve treatment of rare corneal disease.

As the field of ocular drug delivery grows so does the potential for novel drug discovery or reformulation in lesser-known diseases of the eye. In particular, rare corneal diseases are an interesting area of research because drug delivery is limited to the outermost tissue of the eye. This review will highlight the opportunities and challenges of drug reformulation and alternative treatment approaches for rare corneal diseases. The barriers to effective drug delivery and proposed solutions in development will be discussed along with an overview of corneal rare disease resources, their current treatments and ophthalmic drug delivery systems that could benefit such cases. The regulatory considerations for effective translation of orphan-designated products will also be discussed.

Forceps trauma in a newborn presenting as iris heterochromia.

Birth-associated ocular trauma is common and often minor, including subconjunctival and retinal haemorrhage and eyelid edema. Significant ocular trauma during birth, usually associated with forceps-assisted delivery, is rarer and can include Descemet's membrane rupture, lid lacerations, hyphema, Purtcher retinopathy, facial nerve palsy, corneal edema, and corneal laceration. We report the first case of ocular birth trauma from forceps presenting as isolated iris heterochromia and a pseudo rubeosis iridis, which completely resolved by 1 month of age with no known adverse ocular sequelae.

IC3D classification of corneal dystrophies--edition 2.

PURPOSE: To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information. METHODS: The IC3D reviewed worldwide peer-reviewed articles for new information on corneal dystrophies published between 2008 and 2014. Using this information, corneal dystrophy templates and anatomic classification were updated. New clinical, histopathologic, and confocal photographs were added. RESULTS: On the basis of revisiting the cellular origin of corneal dystrophy, a modified anatomic classification is proposed consisting of (1) epithelial and subepithelial dystrophies, (2) epithelial-stromal TGFBI dystrophies, (3) stromal dystrophies, and (4) endothelial dystrophies. Most of the dystrophy templates are updated. The entity "Epithelial recurrent erosion dystrophies" actually includes a number of potentially distinct epithelial dystrophies (Franceschetti corneal dystrophy, Dystrophia Smolandiensis, and Dystrophia Helsinglandica) but must be differentiated from dystrophies such as TGFBI-induced dystrophies, which are also often associated with recurrent epithelial erosions. The chromosome locus of Thiel-Behnke corneal dystrophy is only located on 5q31. The entity previously designated as a variant of Thiel-Behnke corneal dystrophy on chromosome 10q24 may represent a novel corneal dystrophy. Congenital hereditary endothelial dystrophy (CHED, formerly CHED2) is most likely only an autosomal recessive disorder. The so-called autosomal dominant inherited CHED (formerly CHED1) is insufficiently distinct to continue to be considered a unique corneal dystrophy. On review of almost all of the published cases, the description appeared most similar to a type of posterior polymorphous corneal dystrophy linked to the same chromosome 20 locus (PPCD1). Confocal microscopy also has emerged as a helpful tool to reveal in vivo features of several corneal dystrophies that previously required histopathologic examination to definitively diagnose. CONCLUSIONS: This revision of the IC3D classification includes an updated anatomic classification of corneal dystrophies more accurately classifying TGFBI dystrophies that affect multiple layers rather than are confined to one corneal layer. Typical histopathologic and confocal images have been added to the corneal dystrophy templates.

Prevalence of abnormal pattern reversal visual evoked potentials in craniosynostosis.

BACKGROUND: The purpose of this study was to examine the prevalence and type of changes observed in the pattern reversal visual evoked potentials recorded at the first assessment of children with craniosynostosis. METHODS: Visual evoked potentials were recorded from 114 patients with craniosynostosis. Eighty-one patients were syndromic and 33 were nonsyndromic. No patient had received any craniofacial surgical intervention. At the time of the test, 22 of 40 patients were aged 6 months and younger, and 18 patients were between 6 months and 1 year of age. Pattern reversal visual evoked potentials were recorded from a midoccipital electrode positioned 3 cm above the inion. The pattern reversal visual evoked potentials elicited to 50' checks with three reversals per second viewed with both eyes were analyzed for n80-p100 amplitude, p100 latency, and breadth of waveform. RESULTS: Sixty percent of patients had abnormal pattern reversal visual evoked potentials to 50' checks. This did not show a significant association with age, or classification of craniosynostosis. CONCLUSIONS: The high prevalence of abnormal pattern reversal visual evoked potentials to a robust stimulus suggests that visual pathway dysfunction, as measured electrophysiologically, can affect a majority of patients with craniosynostosis. This study indicates that a baseline evaluation of all children with craniosynostosis at their first presentation is essential if subsequent electrophysiologic visual pathway monitoring is to take place.