Chemical injuries frequently result in vision loss, disfigurement, and challenging ocular surface complications. Acute interventions are directed at decreasing the extent of the injury, suppressing inflammation, and promoting ocular surface re-epithelialization. Chronically, management involves controlling inflammation along with rehabilitation and reconstruction of the ocular surface. Future therapies aimed at inhibiting neovascularization and promoting ocular surface regeneration should provide more effective treatment options for the management of ocular chemical injuries.

BackgroundIARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes with autosomal recessive inheritance. These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies.MethodsGenomic DNA from Iranian probands from two families with consanguineous parental background and overlapping CAGSSS features were subjected to exome sequencing and bioinformatics analysis.ResultsExome sequencing and data analysis revealed a novel homozygous missense variant (c.2625C > T, p.Pro909Ser, NM_018060.3) within a 14.3 Mb run of homozygosity in proband 1 and a novel homozygous missense variant (c.2282A > G, p.His761Arg) residing in an ~ 8 Mb region of homozygosity in a proband of the second family. Patient-derived fibroblasts from proband 1 showed normal respiratory chain enzyme activity, as well as unchanged oxidative phosphorylation protein subunits and IARS2 levels. Homology modelling of the known and novel amino acid residue substitutions in IARS2 provided insight into the possible consequence of these variants on function and structure of the protein.ConclusionsThis study further expands the phenotypic spectrum of IARS2 pathogenic variants to include two patients (patients 2 and 3) with cataract and skeletal dysplasia and no other features of CAGSSS to the possible presentation of the defects in IARS2. Additionally, this study suggests that adult patients with CAGSSS may manifest central adrenal insufficiency and type II esophageal achalasia and proposes that a variable sensorineural hearing loss onset, proportionate short stature, polyneuropathy, and mild dysmorphic features are possible, as seen in patient 1. Our findings support that even though biallelic IARS2 pathogenic variants can result in a distinctive, clinically recognisable phenotype in humans, it can also show a wide range of clinical presentation from severe pediatric neurological disorders of Leigh and West syndrome to both non-syndromic cataract and cataract accompanied by skeletal dysplasia.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0709-3) contains supplementary material, which is available to authorized users.

In conclusions based on the results, there was no significant relationship between kind of feeding during the first 6 months of infancy and VA and refractive errors.

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SU M M A RYTopical anesthetic eye drops are used extensively for ophthalmic examinations but selftreatment and non-technical removal of foreign bodies using tetracaine drops can be hazardous. The present study intended to determine the inadmissible uses of anesthetic tetracaine eye drops, manner of drug obtaining and likelihood of the ocular complications in the patients.This cross-sectional study was conducted on 162 patients with ocular pain and foreign body sensation, red eye or lid edema admitted to the Eye clinic in Sabzevar, Iran. Variables included age, sex, chief compliant, job, site of foreign bodies, diagnosis of problem, use of tetracaine drops, drug provision, times patients referred to the eye clinic, and kinds of treatment.The most common chief complaint for admission to the Eye clinic was lacrimation (55.6%), followed by ocular pain, and foreign body sensation (35.8%). Some patients (30.9%) (mostly welders) inadmissibly used topical tetracaine eye drops; 21.6% of cases obtained tetracaine eye drops from drugstores without doctor's prescription, and only 3.7% provided drugs by prescription. Corneal site (81.5%) was the most common location of foreign body; metallic foreign body (63%) was the most common. One patient was admitted in hospital for management.Topical inadmissible tetracaine (0.5%) is commonly used by welders, who obtain it from drugstores without prescriptions due to its simple usage and short acting pain relief. Supervision is required over drugstores for denying it if demanded without a prescription. Enhancing clients' awareness is also suggested.