TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.

Conjunctival and corneal sensitivity in patients under topical antiglaucoma treatment.

The purpose of the study is to measure corneal and conjunctival sensitivity in patients under glaucoma topical treatment as compared to a control group. It is a case-control study. Corneal and conjunctival esthesiometry were carried out through a Cochet-Bonnet esthesiometer. We took healthy individuals as controls, who did not use any type of ophthalmic topical medications and without history of ocular surface pathology or irritation. The study group was subdivided per number of applications (1, 2, and 3 or more applications). From a total 182 eyes from 91 patients, of which 26 (28.57 %) were controls and 65 (71.43 %) were in the study group, a mean corneal sensitivity of 58.98 ± 2.25 mm was found in the control group and 52.97 ± 6.41 mm in patients using topical medication. Mean conjunctival sensitivity was 18.80 ± 5.40 mm in the control group and 11.76 ± 5.45 mm in the study group. There was no statistically significant difference among groups when separated by 1, 2, and 3 or more applications. Eyes under use of timolol-containing medications showed lower sensitivity values as compared to other topical antiglaucoma medications. Corneal and conjunctival sensitivities are diminished in patients with chronic use of topical hypotensive medications and these results can explain the lack of correlation between signs and symptoms that is typically found in patients treated for glaucoma or ocular hypertension.

Intraocular Pressure Changes during Hemodiafiltration with Two different Concentrations of Sodium in the Dialysate.

Ocular complications are common among end-stage renal disease patients and some complications had been linked to increments of intraocular pressure (IOP) during hemodialysis. The changes of IOP during hemodiafiltration (HDF) have been scarcely investigated and the potential influence of the sodium dialysate concentration is unknown. The aim of this study was to compare the IOP changes during HDF with sodium dialysate concentration, either fixed or individualized. Thirteen end-stage renal disease patients participated in the study; they were treated with HDF using a dialysate sodium profile fixed at 138 mmol and another session with an individualized sodium profile. The intraocular pressure was measured before and after each session and every 30 min during HDF. Both groups had a similar HDF prescription, blood pressure, and biochemical parameters. At the end of hemodiafiltration, sodium concentration decreased only in the fixed sodium profile group. The number of patients with at least an episode of intraocular hypertension during HDF ranged from 5 (19%) to 8 (31%) without significant differences between right and left eye nor between dialysate sodium concentration. During HDF, there is a large variability of IOP; transient events of intraocular hypertension are highly prevalent in this sample, and they are not related to the sodium dialysate concentration.

Pressure-induced stromal keratopathy after laser in situ keratomileusis: Acute and late-onset presentations.

We present a series of 4 cases of pressure-induced stromal keratopathy after laser in situ keratomileusis (LASIK). Four patients (5 eyes) with previous LASIK presented for poor visual acuity and ocular pain because of ocular hypertension. At examination, all cases revealed corneal haze and a space filled with fluid between the surgical flap and the residual stroma. All cases were managed with topical hypotensive treatment and one of them was also treated with a valve drainage device. Topical steroids restriction was indicated in all cases. Intraocular pressure (IOP) was normalized in all cases with subsequent interface fluid resolution and significant improvement of vision in most cases. Early recognition and appropriate treatment for pressure-induced stromal keratopathy is essential to avoid complications associated with prolonged elevated IOP. It is extremely important to measure the IOP in the peripheral cornea because IOP in the central cornea can be incorrectly measured with the characteristic interface fluid developed in this entity.

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c.2626delG, p.Val876Tyrfs*16) were identified in the compound heterozygous state, thus broadening the mutational spectrum of the disease. We performed a literature review of the clinical and genetic features of individuals carrying FREM1 mutations.

Glaucoma Mini-Shunt Implantation After Keratoplasty.

PURPOSE: To report the outcomes of patients who underwent miniature glaucoma shunt implantation after secondary glaucoma due to keratoplasty. MATERIALS AND METHODS: Prospective study of consecutive clinical cases who underwent mini-glaucoma shunt implantation following keratoplasty. In brief, a fornix-based conjunctival flap was performed, approximately 50% thickness scleral flap. Mitomycin C 0.025% placed under Tenon's capsule. A 25-G needle created entry for mini-shunt. Ex-PRESS model P-50 was inserted. Scleral flap and conjunctiva were closed with 10-0 Nylon. STATA 8.0 and SPSS software were used for statistical analysis. RESULTS: Seventeen eyes of 17 patients with a mean age of 39.70 years (SD=18.33, range: 18 to 76). A total of 64.70% were male and 35.30% female. Eleven cases after penetrating keratoplasty, 3 cases after triple procedure, 2 after deep anterior lamellar keratoplasty, and 1 following endothelial keratoplasty. Most of the indications for keratoplasty were keratoconus in 9 cases (52.94%), 4 due to endothelial failure (23.52%), 3 cases of herpetic keratitis (17.64%), and 1 case of post-LASIK ectasia (5.88%). Mean preoperative intraocular pressure was 35.94 mm Hg with maximal medical therapy (SD=9.65, range: 18 to 55). Decreasing intraocular pressure to 12.76 mm Hg postoperatively (SD=2.51, range 10 to 18) (P=0.001). Mean follow-up after mini-glaucoma shunt implantation was 23.76 months (SD=8.73, range: 10 to 35 mo). Preoperative mean uncorrected distance visual acuity (UDVA) was 1.31±0.63 (20/408 Snellen) and postoperative mean UDVA was 0.85±0.40 (20/141 Snellen) (P=0.001). Preoperative mean corrected distance visual acuity (CDVA) was 0.83±0.76 (20/135 Snellen) and postoperative mean CDVA was 0.56±0.44 (20/72 Snellen) (P=0.032). CONCLUSIONS: Ex-PRESS miniature glaucoma shunt could be an alternative treatment in postkeratoplasty glaucoma resistant to medical treatment. This technique may be helpful, in trying to avoid corneal damage produced by conventional glaucoma procedures.