Efficacy of a fixed combination of 0.09 % xanthan gum/0.1 % chondroitin sulfate preservative free vs polyethylene glycol/propylene glycol in subjects with dry eye disease: a multicenter randomized controlled trial.

BACKGROUND: Dry eye disease (DED) is multifactorial, affecting 5-34 % of the global adult population and reducing quality of life. The artificial tears or lubricants are the therapy most used for the treatment of DED, due to their low side effect profile, which attempt to modify the properties of the tear film. The aim of the present study was to evaluate the clinical efficacy of a fixed combination of xanthan gum and chondroitin sulfate preservative free on the ocular surface of patients with dry eye disease during 60 days of intervention. METHODS: A phase III, double-blind, masked, controlled, multicenter, clinical trial of 148 subjects, randomized to either a fixed combination of xanthan gum 0.09 % and chondroitin sulfate 0.1 % (XG/CS) ophthalmic solution (n = 76) or a fixed combination of polyethylene glycol 400 0.4 % and propylene glycol 0.3 % (PEG/PG) (n = 72). Subjects self-dosed four times daily during 60 days. Follow-up was set on days 2, 7, 15, 30 and 60. Assessments of anterior/posterior segment ocular signs were performed. The outcome measures included Schirmer test, tear film break-up time and OSDI score. Security variables included intraocular pressure, lisamine green and fluorescein ocular surface stains. RESULTS: The primary efficacy endpoints were similar between groups at baseline. After intervention time Schirmer test increased in both groups compared to baseline, XG/CS (6.4 ± 2.2 vs 11.0 ± 6.6; p = 0.002) and PEG/PG (6.5 ± 2.5 vs 10.5 ± 5.6; p = 0.019) respectively. Similar results were reported in the tear film break-up time in XG/CS (5.5 ± 2.1 vs 7.4 ± 2.9; p = 0.027) and PEG/PG (5.2 ± 2.0 vs 7.4 ± 2.7; p = 0.046) respectively. The OSDI score decreased to normal values in both groups, XG/CS (19.3 ± 7.4 vs 7.3 ± 5.9; p = 0.001) and PEG/PG (19.3 ± 7.5 vs 7.9 ± 8.2; p = 0.001) respectively. There was no significant difference between treatments for any parameter. Moreover, both groups decreased the presence of burning sensation, tearing, foreign body sensation, conjunctival hyperemia and photophobia. The adverse events were not related to the interventions. CONCLUSIONS: Xanthan gum/chondroitin sulfate preservative free showed similar clinical efficacy, evaluated with OSDI score, TBUT and Schirmer test compared to polyethylene glycol/propylene glycol in the treatment of dry eye disease. TRIAL REGISTRATION: ClinicalTrials.gov: NCT01657253 . Date of registration May 19, 2014.

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.

Corneal dystrophies (CDS) are inherited disorders characterized by an altered corneal transparency and refractive index which may be caused by a progressive accumulation of deposits within the different corneal layers. Most CDs are inherited in an autosomal dominant fashion and mutations in the TGFBI gene at chromosome 5q31 cause the majority of CDs affecting the stromal layer. A genotype-phenotype correlation has been identified in most analyzed populations as specific amino acid changes in TGFBI protein cause specific stromal phenotypes. However, analysis of additional populations will help to broaden the mutational spectrum ultimately allowing a better clinical-molecular classification of patients with this group of diseases. In this work, eighteen unrelated Mexican probands suffering from stromal CDs were clinically assessed and their TGFBI gene status investigated. Complete ophthalmologic evaluation, including biomicroscopic inspection and dilated fundus examination, was performed. In addition, detailed genealogical analyses as well as automated DNA sequencing of the entire TGFBI gene were done in all probands. Mutation-carrying exons were examined in 50 first and second degree relatives. Phenotypic analysis disclosed the occurrence of 6 cases of lattice CD, 6 of granular CD, 2 of granular type 2 (Avellino CD), 2 of polymorphic corneal amyloidosis, 1 of Reis-Bucklers CD, and 1 of an unclassifiable phenotype. TGFBI mutations were identified in all 18 probands. A total of six different mutations were observed: p.V113I, p.M502V, p.A546D, p.L550P, p.R555W, and p.H626R. Of these, mutations p.L550P (originated by the change c.1649T>C at exon 12), p.M502V (c.1504A>G, at exon 11), and p.V113I (c.337G>A, at exon 4), are novel TGFBI mutations. All subjects with lattice CD in our sample carried the p.H626R mutation. No instances of defects at codon 124, one of the two most frequently mutated sites in TGFBI-linked CDs, were detected. A distinct TGFBI mutational pattern was identified in Mexican patients with stromal CDs. Novel TGFBI mutations and new genotype-phenotype correlations were also recognized. This study stresses the importance of performing TGFBI genetic analysis in distinct CD populations.

Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.

PURPOSE: To report the clinical and molecular study of a family with an autosomal dominant stromal granular dystrophy of the cornea caused by a novel and unusual TGFBI gene mutation. METHODS: A complete ophthalmological examination, corneal dystrophy phenotype characterization, PCR amplification, and automated nucleotidic sequencing of exons 4, 11,12, 13, and 14 of the TGFBI gene was carried out on the family. DNA from 40 unrelated ethnically matched healthy individuals were analyzed as controls. RESULTS: Corneal dystrophy in two sisters was characterized by multiple grayish-white lesions located in the anterior and mid-stroma. Numerous small sized non-coalescent opacities were observed in the peripheral cornea while fewer larger lesions were apparent towards the central part of the cornea. A heterozygous missense mutation, consisting of a G to A transition at nucleotide position 384 in TGFBI exon 4 that predicts a valine (GTT) to isoleucine (ATT) replacement in residue 113 (Val113Ile) of the TGFBI protein was identified. CONCLUSIONS: This is the most 5' located mutation detected so far in subjects with TGFBI-linked corneal dystrophy. Valine 113 is strictly conserved in TGFBI from several species and we suggest that the phenotype observed in these patients is related to the unusual location of the mutation. Our results expand the mutational spectrum in the group of TGFBI-linked corneal dystrophies.

Queratomicosis caracteristicas clínicas y factores relacionados / Keratomycosis clinical characteristics and related factors

Presentamos un estudio retrospectivo descriptivo realizado en el Hospital Oftalmológico de Nuestra Señora de la Luz, desde mayo de 1981 a mayo de 19889. Se analizaron los expedientes de 32 pacientes con reporte de frotis corneal, procesado mediante el método de Papanicolaou, positivo de queratomicosis. El 75.1%de los pacientes no refería antecedentes traumático mientras que el 93%manifestaban haber usado tratamiento tópico en forma indiscriminada. La sintomatología inicial no mostró características diferentes a la infección corneal de otra etiología. Los signos por el contratio, mostraron ser constantes con lo que pudimos establecer un cuadro clínico indicativo de esta patología. Asimismo, observamos que el 96.9%procedian del área rural con condiciones socio económicas deficientes. El resultado final fue mejor cuando hubo un menor tiempo de evolución desde que principiaron los síntomas hasta el inicio del tratamiento adecuado. Mostrando ser lo mejor la conducta antimicòtica inmediata, o cuando se esperó el resultado del frotis y posteriormente se dio manejo médico específico.

Autoinjerto corneal rotatorio / Corneal rotatorig autotransplantation

Diversas técnicas de autotransplante, mediante rotación han sido descritas en el pasado. Se han intentado injertos circulares, cuadrangulares, triangulares, de doble semicírculo, etc., con el fin de sustituir el tejido opaco por transplante, sin necesidad de tejido donador. Dichas técnicas han tenido buenos resultados, en manos de sus autores, sin embargo, al ser realizadas por otros cirujanos, no se ha conseguido el mismo éxito debido en gran parte a la pobre reproductibilidad de dichos procedimientos. El presente artículo, describe una modificación de estas técnicas y el desarrollo de un nuevo marcador, que tiene la finalidad de estandarizar la técnica y facilitar su reproducción.