Trans-epithelial accelerated corneal cross-linking for keratoconus in children.

The aim of the study is to evaluate the safety and efficacy of trans-epithelial accelerated corneal cross-linking (TE-ACXL) in children with progressive keratoconus. Retrospective, case-series of 23 eyes of 14 children who underwent TE-ACXL. Evaluations were performed at baseline and 1, 3, 6, 12 and 18mo postoperatively.

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.

Aims: Osteoporosis-pseudoglioma syndrome (OPPG) is an uncommon autosomal recessive disorder characterized by the rare association of early-onset osteoporosis and severe ocular abnormalities such as persistent fetal vasculature and microphthalmia. Biallelic mutations in the low-density lipoprotein receptor-related protein-5 gene (LRP5) have been associated with OPPG. We present clinical and genetic data from three Mexican OPPG patients, a pair of sibs, and a sporadic case.

Fibroblasts: The Unknown Sentinels Eliciting Immune Responses Against Microorganisms.

Fibroblasts are present in all tissues but predominantly in connective tissues. Some of their functions include contractility, locomotion, collagen and elastin fiber production, and the regulation and degradation of the extracellular matrix. Also, fibroblasts act as sentinels to produce inflammatory mediators in response to several microorganisms.

The clinical implications of molecular monitoring and analyses of inherited retinal diseases.

Retinal dystrophies (RDs) are the most common cause of inherited blindness and one of the most genetically heterogeneous human diseases. RDs arise from mutations in genes involved in development and function of photoreceptors or other retinal cells. Identification of the genetic defect causing RD allows accurate diagnosis, prognosis, and counseling in affected patients.

Ophthalmic features of spinocerebellar ataxia type 7.

PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and methodsThis was a case series study. Sixteen SCA7 patients underwent a comprehensive ophthalmic examination, including ocular extrinsic motility testing, color vision test, and optical coherence tomography of the optic nerve and macula.

Optic Nerve Head Drusen: Imaging Using Optical Coherence Tomography Angiography.

Purpose: To describe findings and utility of optical coherence tomography angiography (OCTA) in optic nerve head drusen (ONHD).

Observations: A 57-year-old white man presented with a decrease in contrast sensitivity of the inferior visual field in both eyes. Clinical examination, visual fields, optical coherence tomography, fundus autofluorescence and OCTA revealed ONHD bilaterally.

Refractive errors among children, adolescents and adults attending eye clinics in Mexico.

Aim: To assess the proportion of refractive errors in the Mexican population that visited primary care optometry clinics in fourteen states of Mexico.

Methods: Refractive data from 676 856 patients aged 6 to 90y were collected from optometry clinics in fourteen states of Mexico between 2014 and 2015. The refractive errors were classified by the spherical equivalent (SE), as follows: sphere+½ cylinder.

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.

Importance: The importance of the study was to describe the clinical characteristics and mutational analysis of Mexican patients with aniridia.

Background: Aniridia is a panocular hereditary eye disease caused by mutations in the PAX6 transcription factor. Mutation detection rate is highly variable ranging from 30% to 90% in different populations.

A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico.

Aim: Alström syndrome (AS) is a rare autosomal recessive multisystem disease caused by biallelic mutations in ALMS1, a gene encoding a widely expressed centrosomal/basal body protein. Although more than 200 pathogenic mutations in ALMS1 have been identified to date in AS patients from various ethnic populations, there are very few reports of ALMS1 founder mutations in isolated populations. Our aim was to describe the molecular characterization of a cohort of AS patients from an extended inbred Mennonite kindred settled in Mexico.

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.

Impact of caries and dental fluorosis on oral health-related quality of life: a cross-sectional study in schoolchildren receiving water naturally fluoridated at above-optimal levels.

Purpose: The purpose of this study was to evaluate the impact of caries and fluorosis on oral health-related quality of life (OHRQoL) among schoolchildren living in areas with high concentrations of fluoride in water.

Methods: Five hundred and twenty-four schoolchildren (8-12 year olds) residing in rural communities in central Mexico were examined for oral hygiene, caries (International Caries Detection and Assessment System, ICDAS II), and fluorosis (Thylstrup and Fejerskov Index, TFI). OHRQoL was evaluated with the Child Perceptions Questionnaire for two age groups (CPQ and CPQ).

Congenital upper eyelids ectropion in Down's syndrome.

Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down's syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down's syndrome.

Genome-wide mRNA analysis reveals a TUBD1 isoform profile as a potential biomarker for diabetic retinopathy development.

Diabetic retinopathy (DR) affects approximately one third of all diabetic subjects and is the leading cause of blindness in young to middle-aged adults in the developed world. While early diagnosis is crucial for preventing DR-associated visual loss, the identification of accessible biomarkers that could lead to presymptomatic recognition of the disease is of great clinical importance. The aim of this work was to investigate the possible involvement of alternative splicing events in DR development by performing a genome-wide transcriptional profiling comparing blood-derived RNA from DR subjects and from diabetic-non DR controls.

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.

ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION.

Purpose: To report the results of an association study between single-nucleotide polymorphisms of the p53 and LTA genes and the risk of proliferative vitreoretinopathy (PVR)/retinal detachment (RD) in a Mexican cohort.

Methods: A total of 380 unrelated subjects were studied, including 98 patients with primary rhegmatogenous RD without PVR, 82 patients with PVR after RD surgery, and 200 healthy, ethnically matched subjects. Genotyping of single-nucleotide polymorphisms rs1042522 (p53 gene) and rs2229094 (LTA gene) was performed by direct nucleotide sequencing.

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating numerous cases of LGMD2.

Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.

Purpose: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI).

Methods: A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent.

Uveal Melanoma Cell Lines: Where do they come from? (An American Ophthalmological Society Thesis).

Purpose: To determine whether some of the most often used uveal melanoma cell lines resemble their original tumor.

Methods: Analysis of the literature, patient charts, histopathology, mutations, chromosome status, HLA type, and expression of melanocyte markers on cell lines and their primary tumors. We examined five cell lines and the primary tumors from which they were derived.

Characterization of expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5' region of the polyadenylate RNA binding protein 1 () gene. The frequency of a particular (GCN) expansion in a given population of patients with OPMD is largely influenced by the occurrence of founder mutations.

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides. In this paper, we report two unrelated families with MITF mutations.

Paralysis of the orbicularis muscle of the eye using botulinum toxin type A in the treatment for dry eye.

Purpose: To evaluate the efficacy of botulinum toxin type A injection to cause orbicularis eyelid muscle paralysis to improve dry eye signs and symptoms.

Methods: A prospective, randomized, comparative eye-to-eye and interventional study was performed. Patients with dry eye symptoms and positive fluorescein corneal staining were included.

Tissue and cellular characterisation of nucleolin in a murine model of corneal angiogenesis.

Purpose: Corneal neovascularisation (CNV), with consequent loss of transparency, is due to an imbalance of proangiogenic factors. Cell-surface nucleolin (NCL) has been associated with neo-angiogenesis. There are studies identifying NCL translocation from nucleus to the cell surface, which is essential for endothelial cell proliferation.