The focus of this update is to emphasize the recent advances in the pathogenesis and various molecular key approaches associated with myopia in order to reveal new potential therapeutic targets. We review the current evidence for its complex genetics and evaluate the known or candidate genes and loci. In addition, we discuss recent investigations regarding the role of environmental factors. This paper also covers current research aimed at elucidating the signaling pathways involved in the pathogenesis of myopia.

Glaucoma is a widespread ophthalmological disease, with a high impact and frequent visual morbidity. While the physiopathology of the two types of primary glaucoma (open angle and angle closure) has been studied, there seems to be little relationship between the two. In this study, we gather clinical and preclinical data to support the idea that the two primary glaucomas are “mirrored” in terms of morphological parameters and disease physiopathology. In short, primary angle closure glaucoma (PACG) is associated with hyperopia and low axial length, and primary open angle glaucoma (POAG) is associated with myopia and high axial length. Moreover, in PACG and in primary angle closure or primary angle closure suspect cases, while there is extensive iridotrabecular contact, the intraocular pressure (IOP) is still maintained in the lower half of the normal range throughout the evolution of the disease, which suggests a baseline trabecular hyperfiltration in PACG. In the opposite case, myopic eyes with open angles and a higher risk of developing POAG often have a baseline IOP in the upper half of the normal range, suggesting a baseline trabecular hypofiltration. As we explore clinical, genetic and animal model data regarding these opposing aspects, we hypothesize the existence of a mirroring relationship between PACG and POAG. Defining the relationship between the two potentially blinding diseases, with a high prevalence worldwide, may aid in understanding the mechanisms better and refining diagnosis and treatment. Thus, our theory has been named the Mirror Theory of Primary Glaucomas.

Background : Despite the fact that keratoconus has been tipically defined as a noninflammatory condition, recent research has promoted the role of inflammatory factors and protein changes of tear film in disease progression. Aims : to determine the level of serum albumin, lactoferrin and lyzozyme in tears of keratoconic patients and their correlations with corneal biomechanical properties. Subjects and methods: 16 eyes of keratoconus patients and 14 eyes of control cases were enrolled in an observational prospective study. We performed a complete ophthalmological examination on all participants. In order to determine the concentration of tear film proteins, a minimum of 20 microlitres of tears from the lower conjunctival fornix were collected from each subject and measured by enzyme-linked immunosorbent assay (ELISA) analysis. Results: The level of lactoferrin measured in the tear film was significantly decreased in the keratoconus group compared to the normal subjects in all cases (p<0.05). We also found an increased level of lyzozyme and albumin in the keratoconus patients when compared to the controls, only the lyzozyme beeing statistically significant. In the keratoconus group, the correlations between proteins and important parameters such as keratometry, pachymetry and corneal biomechanics were statistically relevant in our study. Conclusions : We can state that the protein composition of tears is modified in keratoconus by increased levels of protein with inflammatory properties such as albumin or by decreased levels of protein with anti-inflammatory properties such as lactoferrin.

We report a case of a 16-year-old girl presenting to our clinic with decreased visual acuity and increased intraocular pressure in both eyes. The ophthalmological examination revealed best-corrected visual acuity (BCVA) of 0.3 in the right eye (R.E.) and 0.4 in the left eye (L.E.) and intraocular pressure (IOP) of 46 mmHg in the R.E. and 42 mmHg in the L.E., with a 360° closed angle on gonioscopy, pupillary block due to bulging, a hyper-spherical lens and high corneal thickness, without ectopia lentis or cataract. The eyes responded poorly to pharmacological mydriasis; therefore, the lens equator could not be visualised. The patient had a history of pulmonary stenosis, short stature and no significant cognitive deficits. These elements point to the diagnosis of Weill–Marchesani syndrome, and the ophthalmological management was surgical, including lens extraction and the installation of a capsular tension ring, an intraocular lens and a Shunt ExPress implantation. Evolution was favourable, with improved BCVA of 0.7 in the R.E. and 0.63 in the L.E. and IOP of 14 mmHg in the R.E. and 13 mmHg in the L.E., without topical or systemic treatment at the 6-month follow-up. Weill–Marchesani syndrome has a complex presentation, with ophthalmological, musculoskeletal, cardiac and psychiatric manifestations. Usually, this leads to a need for a multidisciplinary approach. The ophthalmologic symptoms are often the cause of presentation to a specialist, and glaucoma is the most threatening of the ocular pathologies, with possible evolution into irreversible blindness; therefore, prompt surgery and careful follow-up become key components of the treatment plan. As a take-home message, we encourage a high degree of suspicion of Weill–Marchesani syndrome in such cases.

Glaucoma is one of the world’s leading causes of irreversible vision loss. It is often asymptomatic until it reaches an advanced stage, which can have a significant impact on patients’ daily lives. This paper describes the case of a 50-year-old female patient who presented with acute onset of ocular pain, photophobia, and loss of visual acuity in her right eye (RE). The patient’s medical history includes congenital cataracts, surgical aphakia, nystagmus, strabismus, amblyopia, and secondary glaucoma. Ophthalmological examination showed BCVA RE-hand movement, left eye (LE)—0.08 with an intraocular pressure (IOP) of 30 mmHg in RE and 16 mmHg in LE. Biomicroscopic examination of RE showed corneal graft, epithelial and endothelial edema, endothelial precipitates, corneal neovascularization, aphakia, and Ahmed valve superotemporally. Despite maximal topical and systemic treatment, Ahmed valve, and trabeculectomy, secondary glaucoma in the right eye remained refractory. Reimplantation of an Ahmed valve was performed. This resulted in a favorable outcome with increased visual acuity and controlled intraocular pressure. The combination of aphakia, penetrating keratoplasty, and secondary glaucoma is a challenge for any surgeon. It is important that both the perioperative risks and the possible complications are carefully assessed in each patient, especially if associated pathology is present.