Decreased Tear Production Research Articles

N-Palmitoylethanolamine Maintains Local Lipid Homeostasis to Relieve Sleep Deprivation–Induced Dry Eye Syndrome

Sleep loss is a key factor associated with dry eye. Use of a “stick over water” mouse model revealed that sleep deprivation induces accumulation of lipids, hypertrophy, and dysfunction of the lacrimal gland. These changes result in decreased tear production and dry eye clinical signs. The specific pathophysiological mechanisms that contribute to dry eye remain unclear. In this study, we found that sleep deprivation decreased endogenous lipid palmitoylethanolamide (PEA) expression in the lacrimal gland. The reduced expression was mainly attributed to the decreased expression of N-acylated phosphatidylethanolamine–phospholipase D, the synthetic enzyme of PEA. Exogenous PEA treatment restored local lipid metabolism homeostasis in the lacrimal gland. This change was accompanied by reduced lipid deposition, maintenance of the endoplasmic reticulum and mitochondrial morphology, and improved acinar cell secretory function. PEA treatment also prevented damage to corneal barrier function and improved the dry eye clinical signs caused by sleep deprivation. The nuclear receptor peroxisome proliferator-activated receptor-α (PPAR-α) was found to mediate the PEA-associated improvements. We describe here for the first time that PEA is involved in sleep deprivation–induced lacrimal gland pathogenesis and dry eye development. PEA and its metabolizing enzymes may serve as adjunctive therapeutic targets for treatment of dry eye.

Impact study of polarized light on the eye in a experimental model of dry eye disease

AbstractNow dry eye disease (DED) influences each tenth inhabitant of the planet. Current question of modern ophthalmology are the search for new therapies, one of which is the application of BIOPTRON‐PILER therapy.PurposeTo study of pathophysiological mechanisms of action and clinical efficacy of poly‐ and monochromatic BIOPTRON‐PILER‐light of dry eye disease.MethodsHere, we used rats with an experimental model of the dry eye induced by inflammation of eye anterior surface. BIOPTRON‐PILER therapy was performed using the red filter of the BIOPTRON (Bioptron AG, Zepter Group, Swiss) at 1 day after induction of DED. Only the right eye was treated from the distance of 30 cm for 3 min. Each animal received a course of treatment for 10 days.ResultsAre showed that a fluorescein test carried out immediately after alkali application and on 1, 5 and 10 days demonstrated a gradual increase in corneal epithelization and vascularization. We observed substantial and statistically significant increase of lacrimation in experimental rats on a 1 day after induction of inflammation compared to naïve animals. By the 7 day, the lacrimation decreased to a level with subsequent tendency to further decreased tear production. At the same time, there was no significant reduction in tear production on 7th day in a group of rats with the anterior surface inflammation that received polarized red light treatment, which may indicate a possible anti‐inflammatory effect of such treatment.ConclusionObtained evidence of the positive anti‐inflammatory effect of BIOPTRON‐PILER‐light in experimental model of the dry eye disease.

Dry eye in rheumatoid arthritis patients: Correlation with disease activity

Introduction and Objectives: Dry eye is a very common disorder of tear film resulting from either decreased tear production or increased tear evaporation. Rheumatoid arthritis is a well-known risk factor for dry eye occurrence. This study was undertaken to assess dry eye prevalence in rheumatoid arthritis patients and assess its correlation with disease activity. Materials and Methods: The study period was one year. Seventy patients diagnosed to have rheumatoid arthritis were enrolled in this study. They were given an OSDI questionnaire, examined for signs of dry eye and subjected to four tests (Schirmer test, TBUT, rose bengal test, Impression cytology), based on which they were labelled as being positive or negative for dry eye. The arthritis disease activity was determined using DAS score. Results: Dry eye prevalence in rheumatoid arthritis was found to be 48.5%. OSDI scores were found to correlate well with diagnostic tests done for dry eye only when they were high indicating poor correlation between signs and symptoms in early stages. Prevalence increased with increase in age of patients. There was no correlation between the occurrence of dry eye and duration of rheumatoid arthritis, rheumatoid factor or arthritis disease activity. Conclusion: Prevalence of dry eye is high in rheumatoid arthritis patients. OSDI questionnaire is a useful screening tool for dry eye. Impression cytology is an easy and useful test to assess surface changes in dry eye patients. Keywords: Disease activity, Dry eye, Impression cytology, OSDI, Rheumatoid arthritis.

Rationalized Approach for Formulation and Optimization of Ebastine Microemulsion Using Design Expert for Solubility Enhancement

Ebastine is available as an oral antihistamine formula for allergic disorders such as tablets and syrup. Oral ebastine causes unfavorable effects on heart like QT prolongation, severe gastric distress, decreased tear production, resulting in dryness of the ocular surface, which exacerbates ocular discomfort and increasing susceptibility of eye to irritation. To avoid systemic side effects and ocular discomfort, topical ocular therapy could prove to be superior to systemic therapy in treating ocular allergies. Hence, topical formulation was developed to achieve onsite exposure of ebastine for ocular allergies. Moreover, conjunctiva is more accessible to hydrophilic molecules than lipophilic molecules. This creates challenge for a lipophilic molecule such as ebastine for topical ocular development. Successful dissolution of ebastine in o/w microemulsion allows its use in more convenient soluble form. Initially, solubility of drug in various oils, surfactant and cosurfactant was determined, followed by pseudo-ternary phase diagram to find microemulsion area. The D-optimal mixture design was employed for optimization of formulation. The optimized microemulsion formulation was characterized for its transparency, drug content, droplet size, zeta potential, viscosity, isotonicity, osmolarity and surface tension etc. The optimum physicochemical properties were observed to be eye-fitting. Carboxy methyl cellulose and sodium hyaluronate were used as gelling agents at different concentrations to increase residential time at the site of action. In vitro drug release study revealed that ebastine release from microemulsion gel in a sustained manner up to 24 hrs. for the purpose of providing prolonged therapy for ocular allergy. Hence, prepared microemulsion had great potential as an alternative to customary oral formulations of poorly soluble drug. Keywords: Ebastine, Microemulsion, D-optimal mixture design, Solubility

Evaluation of dry eye disease in patients with diabetic retinopathy

Introduction: Due to lack of correlation between symptoms and signs in dry eye disease, changes in tear film parameters and ocular surface health have shown wide variance across different studies worldwide. The present study evaluated the efficacy Schirmer, tear film break-up time (TBUT) and conjunctival impression cytology (CIC) in type 2 diabetics with retinopathy. Materials and Methods: The scoring of Schirmer test, TBUT, and CIC was compared in 75 eyes of diabetics with retinopathy and 75 eyes of age and sex matched healthy controls. The diagnostic accuracy of these test for dry eye diagnosis was estimated using receiver operating curve (ROC) analysis. Results: Dry eye indices showed a significant reduction (PTBUT (AUC=0.948) >Schirmer (AUC= 0.864), respectively. Conclusion: Tear film characteristics and ocular surface health in patients with type 2 diabetes mellitus with retinopathy include decreased tear production as well as tear film stability with worse Nelson grade (squamous metaplasia), respectively. Second, the accuracy of CIC to evaluate dry eye in patients with diabetes was higher as compared to TBUT and Schirmer. All diabetic patients should be examined for tear film and ocular surface changes irrespective of the stage of retinopathy. Keywords: Conjunctival impression cytology, Dry eye, Receiver operating curve, Schirmer Test, Tear film break-up time, Type 2 retinopathy.

A New Ophthalmic Pharmaceutical Formulation, Topical Sulglycotide, Enhances the Ocular Mucin Secretion in Desiccation Stress-Mediated Dry Eye Disease.

The aim of this study was the investigation of the effect of sulglycotide (SOS), a polysulfated glycopeptide derived from porcine duodenal mucin, for the treatment of dry eye disease. NOD.B10.H2b mice were exposed to an air draft for 10 days, and, simultaneously, scopolamine hydrobromide was injected subcutaneously. The mice were randomly divided into nine groups as follows: four kinds of SOS formulations and three kinds of commercial medicine. After 10 days of treatment, we estimated the effect of treatment on tear production, epithelium stabilization, mucin secretion, and inflammation. The desiccation stress significantly decreased tear production and corneal epithelium stabilization, as well as markedly decreased the numbers of goblet cells and mucin-stained cells in conjunctiva. However, the topical 4% SOS eye drops markedly increased tear production and corneal stabilization, which recovered to baseline levels. In addition, topical 4% SOS significantly induced an increase in the numbers of goblet cells and the expression of membrane-associated mucins including MUC1, MUC4, and MUC16, as well as the gel-forming mucin, MUC5AC. Furthermore, SOS formulations provided anti-inflammatory improvement in a dose-dependent manner. In summary, we suggest that a new ophthalmic pharmaceutical formulation, topical sulglycotide, enhances the ocular mucin secretion in dry eye disease and can be used as a new ophthalmic pharmaceutical material to treat dry eye disease.

Dry Eye among Medical Students of Gandaki Medical College, Pokhara, Nepal

Introduction: Dry eye disease results from decreased tear production, increased evaporation of tears and inflammation. Medical students of­ten have dry eyes due to use of projectors, computers for study and also due to use of mobiles.
 Objective: The present study was undertaken to find out dry eye by Schirmer 1 test with local anesthesia and measurement of wetting of Schirmer test strip.
 Methods: Schirmer 1 test with anesthesia was performed on 200 medi­cal students from June 1, 2017 to June 1, 2018 after obtaining informed consent and after applying some exclusion criteria. The test was per­formed by first applying 4% topical lignocaine and then using Whatman filter paper no 41 and wetting of the filter paper measured after five minutes and time noted.
 Results: 146 (73%) Among 200 Students, were males and 54 (27%) were females. Mean age of patients was 21.73 ±1.42 years. Mild dry eye was seen in 19.5%, moderate in 13% and severe dry eye in 13.5% of medical students
 Conclusion: Dry eye is one of common ocular disease among medical students.

Ocular surface disorder among HIV and AIDS patients using antiretroviral drugs

Background: Ocular disorders occur in 50% – 80% of HIV and AIDS patients, and dry eye has been reported as one of the most common anterior segment manifestations in these patients. Aim: The aim of this study was to investigate ocular surface disorders (OSDs) or dry eye in people living with HIV and AIDS on antiretroviral (ARVs) in a controlled setting. Setting: Mankweng Hospital, ARV Clinic. Methods: This study included 130 HIV and AIDS participants attending an ART Clinic at Mankweng Hospital and 48 controls. Each participant had an anterior and posterior segment eye examination with a slit lamp and fundus camera, respectively. The dry eye or OSD was investigated with Schirmer’s test and invasive fluorescein tear breakup time (TBUT). Results: The means of the Schirmer’s test and TBUT were 6.7 mm ± 4.0 mm and 6.9 ± 4 seconds in HIV and AIDS participants, while the means in the control group were 13.5 mm ± 3 mm and 14.2 ± 3 s, respectively. The correlations between the severity of dry eye and the level of CD4 cell count were positive and significant. Conclusion: There was decreased tear production as measured by the Schirmer’s test and TBUT in our study participants. Statistically significant correlations were found between the severity of dry eye and the level of CD4 cell count. Although the entire pathogenesis of dry eye in HIV and AIDS patients remains unclear, it may be associated with lymphocytic infiltration and destruction of the lacrimal gland.

Relationship between dry eye syndrome and occupational categories

Background: Dry eye syndrome is a broad clinical term that is used to describe a variety of ocular conditions that are characterized by ocular irritation and discomfort secondary to decreased tear production or increased tear evaporation. It is highly prevalent, with almost 1/3 of ophthalmic patients presenting with DES-related symptoms. Many risk factors were linked to the development of DES, including occupation-related risk factors. Aims and Objectives: This study was a cross-sectional study aimed at identifying the association between dry eye syndrome and various occupational categories to determine the occupation-specific risk factors in patients attending the corneal outpatient clinics of Khartoum Eye Teaching Hospital. Materials and Methods: Data were collected from all patients aging 25-50 years who presented with DES-related symptoms and had a positive Schirmer's test. A questionnaire was used in the data collection process. The data were analyzed using SPSS 20. Results: Among the 450 participants, 279 were females (62%). About 140 patients were white-collar workers (31.1%), 134 were blue-collar workers (67 skilled and 67 unskilled; constituting 29.8%), 112 were green-collar workers (24.9%) and the remaining 64 patients were unemployed. (14.2%) An increased risk (in comparison to the unemployed group) was observed for the white-collar (highest risk), blue-collar and green-collar (lowest risk) categories. (P-value < 0.05) Additionally, a highly significant association was noted between the female sex, computer use, and outdoor occupations. (P-value = 0.000) Conclusion: There is an increased risk of developing dry eye syndrome in the various occupational categories. Furthermore, females, computer users, and outdoor workers are also at high risk.

Prevalence of ocular surface disease in patients with glaucoma on topical medications

Aim: To compare the prevalence of ocular surface disease (OSD) in patients using antiglaucoma medications vs normal subjects.&#x0D; Design: Prospective observational study.&#x0D; Methods: A total of 94 patients with glaucoma on topical medications were included in the study group. Age- and gender-matched normal subjects (n = 94) formed the control group. They were assessed for OSD using ocular surface disease index (OSDI) questionnaire, tear break-up time (TBUT), Lissamine green staining, and Schirmer’s test.&#x0D; Results: The prevalence of OSD was significantly more in the study group (72.4%) when compared to controls (44.6%) using the OSDI questionnaire. Schirmer’s test showed 84% patients had decreased tear production in the study group vs 53% in controls. TBUT was abnormal in 67.1% of the study group and of 47.8% controls. Lissamine green staining was positive in 36.2% of patients in the study group and 31.8% of controls.&#x0D; Conclusion: OSD was more common in patients using intraocular pressure (IOP)-lowering drugs than in controls. Long-term therapy and multiple medications were associated with severe OSD.

Sleep Deprivation Induces Dry Eye Through Inhibition of PPARα Expression in Corneal Epithelium.

To determine if sleep deprivation induces dry eye through altering peroxisome proliferator-activated receptor alpha (PPARα) expression in mice. The "stick over water" sleep deprivation-induced dry eye (SDE) model evaluated PPARα involvement in inducing this condition. Scanning electron microscopy (SEM) examined microvilli morphology in superficial corneal epithelial cells (SCECs) in SDE and PPARα-/- mice. Quantitative RT-PCR (qRT-PCR) and Western blot (WB) or immunostaining evaluated PPARα, carnitine palmitoyl transferase 1α (CPT1α), and transient receptor potential vanilloid 6 (TRPV6) expression levels and Ezrin phosphorylation status. Hematoxylin-eosin and Oil Red O staining characterized meibomian gland morphology and corneal lipid accumulation, respectively. Phenol red cotton threads measured tear production. In cultured corneal epithelial sheets, qRT-PCR, WB, and SEM determined the individual effects of fenofibrate and MK886 (PPARα agonist and antagonist, respectively) on PPARα, TRPV6 expression, and SCEC microvilli morphology. Corneal epithelial lipid accumulation, microvilli morphologic changes, and decreased tear production were associated with marked declines in PPARα, CPT1α, and TRPV6 expression levels as well as Ezrin phosphorylation status, whereas meibomian glands were unaltered in SDE mice. These effects of SDE mice mimicked those in their nonstressed PPARα-/-counterpart. Topical application of fenofibrate reversed these effects in SDE corneas. In cultured corneal epithelial sheets, fenofibrate increased PPARα and TRPV6 gene and protein expression levels and restored microvilli morphology, whereas MK886 attenuated these changes. Sleep deprivation induces dry eye through abnormal SCEC microvilli morphology, which is caused by sequential downregulation of PPARα, TRPV6 expression, and Ezrin phosphorylation status in mice.

0.005% Preservative-Free Latanoprost Induces Dry Eye-Like Ocular Surface Damage via Promotion of Inflammation in Mice.

To investigate the side effects of preservative-free 0.005% latanoprost on the murine ocular surface. We applied 0.005% latanoprost or vehicle in mice in two patterns for 14 to 28 days. Tear production was measured by phenol red cotton test, and corneal epithelial barrier function was assessed by Oregon-green-dextran (OGD) staining. Periodic acid-Schiff (PAS) staining was used to quantify conjunctival goblet cells (GCs). The expression of matrix metalloproteinase (MMP)-3 and -9, occludin-1 and zonula occludens (ZO)-1 in corneal epithelium was assessed by immunofluorescent staining and/or quantitative real-time PCR (qRT-PCR). Inflammation in conjunctiva was assessed by activation of P38 and NF-κB, infiltration of CD4+ T cells, and production inflammatory cytokines including TNF-α, IL-1β, IFN-γ, IL-17A, and IL-13. Apoptosis in ocular surface was assessed by TUNEL and immunofluorescent staining for activated caspase-3 and -8. Cell viability assay was performed in human corneal epithelial cells. Topical latanoprost treatment decreased tear production, induced conjunctival GC loss, disrupted the corneal epithelial barrier, and promoted cell apoptosis in the ocular surface. Topical latanoprost treatment increased the expression of MMP-3 and -9, and decreased the expression of ZO-1 and occludin-1 in the corneal epithelium. Topical application of latanoprost promoted activation of P38-NF-κB signaling and production of TNF-α and IL-1β in conjunctiva. Topical application of latanoprost increased CD4+ T cells infiltration, with increased production of IFN-γ and IL-17A and decreased production of IL-13 in conjunctiva. 0.005% latanoprost induced dry eye-like ocular surface damage via promotion of inflammation in mice.

Anti-inflammatory effect of hydroxyproline-GQDGLAGPK in desiccation stress-induced experimental dry eye mouse

The purpose of this study has been the investigation of the effect of novel peptide hydroxyproline-GQDGLAGPK (Hyp-GQDGLAGPK) in desiccation stress-induced dry eye mouse model and compared medicines for dry eye disease including cyclosporine, diquafosol and sodium hyaluronate. Seventy eight NOD.B10.H2b mice were injected with scopolamine and exposed to an air draft for 10 days, and then the mice were treated with normal saline (n = 13), 1% Hyp-GQDGLAGPK (n = 13), 0.05% cyclosporine (n = 13), 3% diquafosol (n = 13), and 0.1% hyaluronate (n = 13) for 10 days. Thirteen mice were used for histopathologic analysis at DS 10d. The desiccation stress significantly decreased tear production, but the topical treatment of Hyp-GQDGLAGPK recovered to the baseline levels, which was similar to cyclosporine and diquafosol. In addition, Hyp-GQDGLAGPK improved facilitating epithelium stabilization including the corneal irregularity score, fluorescein score and detachment of the corneal epithelium. These improvements in stabilization of the corneal epithelium was superior to that in the cyclosporine and sodium hyaluronate groups. Furthermore, desiccation stress markedly induced expression of autoimmune inflammation-related factors in the lacrimal glands, but it was significantly suppressed by Hyp-GQDGLAGPK treatment. Overall, we found that novel peptide Hyp-GQDGLAGPK has multi-functional effects such as stabilizing the tear film and inhibiting inflammation.

Pilot Study of a “Large-Eye,” Surgically Induced Dry Eye Rabbit Model by Selective Removal of the Harderian, Lacrimal, and Meibomian Glands

Background/Aims: Establish a reliable rabbit dry eye (DE) model. Methods: An interventional cohort study surgically removing glands contributing to the tear film. Eight rabbits were studied after removal of left lacrimal, Harderian, or both glands. Additional rabbits had Meibomian glands in the left eye thermally obstructed. All were followed for 10 weeks with phenol red thread (PRT) and slit-lamp examination with 2% fluorescein. We assessed corneal sensitivity using a Cochet-Bonnet esthesiometer. Outcome measures were severity/duration of reduced PRT, punctate epithelial erosions (PEE), and histologic evidence of corneal pannus. Results: Fluorescein staining demonstrated signs of dryness including PEE in all of the interventional eyes. The subjective measurement of epithelial erosions correlated with decreased tear production. PRT measurements in the control eyes averaged 31.54 mm (±1.83) and 22.71 mm (±1.60) in the eight left eyes, without loss of corneal sensitivity. Conclusions: Surgical removal of either the Harderian or lacrimal gland results in statistically significant decreases in tear volume and the development of severe DE. Removal of both glands results in the occurrence of a DE of comparable severity/duration to removal of either the lacrimal or Harderian gland alone. Meibomian gland obstruction contributes less to the DE model.

Therapeutic Efficacy of Nanocomplex of Poly(Ethylene Glycol) and Catechin for Dry Eye Disease in a Mouse Model.

We investigated the possibility of the nanocomplex of poly(ethylene glycol) (PEG) and catechin as a new biomedical material to treat dry eye disease. NOD.B10.H2b mice were exposed to an air draft and injected with scopolamine for 10 days. Ten days later, the mice were treated with normal saline (n = 11), 1% catechin (n = 11), 1% PEG (n = 11), and 1% catechin/PEG nanocomplex solution mixture containing catechin and PEG at weight ratios of 1:1 (CP1, n = 11), 1:5 (CP5, n = 11), and 1:10 (CP10, n = 11). All treatments were administered five times a day for 10 days. We estimated the effect of PEG/catechin nanocomplexes on inflammation, tear production, epithelium stabilization, and goblet cell density. Desiccation stress significantly decreased tear production and increased the corneal irregularity score. Furthermore, desiccation stress markedly increased the detached epithelium and decreased the numbers of conjunctival goblet cells. In addition, the expression of proinflammatory-related factors was markedly induced by desiccation stress in the lacrimal glands. However, the PEG/catechin nanocomplex effectively induced an increase in tear production, stabilization of the corneal epithelium, and an increase in conjunctival goblet cells and anti-inflammatory improvements in a PEG dose-dependent manner. In this study, we found that PEG may increase bioavailability of catechin. Therefore, the PEG/catechin nanocomplex can be used as a new biomedical material to treat dry eye disease through stabilization of the tear film and inhibition of inflammation.

Effect of Retinol Palmitate on Corneal and Conjunctival Mucin Gene Expression in a Rat Dry Eye Model After Injury.

We examined the wound-healing effect of retinol palmitate (VApal) on mucin gene and protein expressions in a rat dry eye model based on lacrimal gland (LG) resection after injury. The rat dry eye model was prepared by surgical resection of the main LG in male Long-Evans rats. After alkaline injury of the central part of the lower palpebral conjunctiva bilaterally, VApal eye drops at 1,500 IU/mL in one eye and a vehicle in the fellow eye were both administered 6 times a day for 7 days. The expression of mucin gene and protein was analyzed by real-time polymerase chain reaction or enzyme-linked immunosorbent assay in the cornea and conjunctiva of MUC1, MUC4, MUC16, and MUC5AC after 1, 3, (5), and 7 days of treatment with VApal. Significant decreases in fluorescein-stained areas and rose bengal scores were observed in VApal-treated dry eyes compared with vehicle-treated dry eyes at both 3 (P < 0.05) and 7 days (P < 0.01). Significant increases in corneal rMuc4 and conjunctival rMuc5AC after 1 day (P < 0.01) and conjunctival rMuc16 gene expression after 3 days were observed with VApal treatment (P < 0.05). Furthermore, conjunctival MUC16 expression significantly increased after 3 days of VApal treatment (P < 0.05). VApal promoted corneal rMuc4, conjunctival rMuc5AC, and conjunctival rMuc16 gene expression in a rat dry eye model after injury. VApal also promoted conjunctival MUC16 expression. These results indicate that VApal has efficacy in improving keratoconjunctival epithelial damage associated with decreased tear production.

Http://jmsronline.com/archive-article/management-of-hyperglycemia-in-diabetics-with-cardiovascular-disease

Purpose: To present a case of systemic sclerosis with asymmetrical skin involvement, decreased tear production not responding to topical cyclosporine therapy and corneal edema in one eye. Methods: An 84 years old female diagnosed with scleroderma two years ago presented with history of decreased vision in the left eye of 10 days duration. Results: She had generalised tight skin which was more on the left side. The skin of the face including the eyelids was tight. Her best corrected visual acuity was 20/30, N6 in the right eye and in the left eye, it was 20/200. The Schirmer’s test without anaesthesia revealed a value of 3 mm in the right eye and 1 mm in the left eye. Anterior segment evaluation showed clear cornea with no guttata in the right eye. In the left eye, there was stromal oedema involving inferior half of the cornea with superficial blood vessels inferiorly. Both the corneas showed central superficial punctuate keratopathy. Anterior segment optical coherence tomography showed normal cornea in the right eye, whereas in the left eye there was hyper-reflectivity at the level of Descemet’s membrane suggestive of increased fibrosis and the corneal thickness was more. Conclusions: Systemic sclerosis can present with asymmetrical skin involvement, decreased tear production not responding to topical cyclosporine therapy and corneal edema in one eye. Further studies are warranted to develop treatment strategies of managing corneal edema in systemic sclerosis. Keywords: systemic sclerosis (SSc); scleroderma; secondary Sjogren’s syndrome; corneal oedema; anterior segment optical coherence tomography

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG). Prospective natural history protocol. In 12 individuals ages 2 to 21 years with confirmed, biallelic, pathogenic NGLY1 mutations, we identified previously unreported clinical features, including optic atrophy and retinal pigmentary changes/cone dystrophy, delayed bone age, joint hypermobility, and lower than predicted resting energy expenditure. Novel laboratory findings include low cerebral spinal fluid (CSF) total protein and albumin and unusually high antibody titers toward rubella and/or rubeola following vaccination. We also confirmed and further quantified previously reported findings noting that decreased tear production, transient transaminitis, small feet, a complex hyperkinetic movement disorder, and varying degrees of global developmental delay with relatively preserved socialization are the most consistent features. Our prospective phenotyping expands the clinical spectrum of NGLY1-CDDG, offers prognostic information, and provides baseline data for evaluating therapeutic interventions.Genet Med 19 2, 160-168.

Prevalence of allergic rhinitis symptoms and positive skin-prick test results in patients with dry eye.

Dry eye is characterized by decreased tear production and/or increased evaporation rates of the tear film barrier. Allergic rhinitis is an inflammatory disease that develops through immunoglobulin E in the rhino-ocular mucosa due to allergens. To investigate the prevalence of allergic rhinitis symptoms and positive skin-prick test results in patients with dry eye. This is a case-control study. The study included 57 patients with dry eye and 48 healthy subjects. The prevalence of allergic symptoms and skin-prick test results were assessed and compared with the control group. With regard to positive reactions to allergens in skin-prick tests, Dermatophagoides pteronyssinus allergy (p = 0.0003), Dermatophagoides farinae allergy (p = 0.0003), grass-mix allergy (p = 0.049), Salicaces allergy (p = 0.006), and Compositae allergy (p = 0.019) were significantly observed to be higher in the group with dry eye. Nasal obstruction (p = 0.027), discharge (p = 0.0001), sneeze (p = 0.0003), itching (p = 0.0001), and postnasal drainage (p = 0.001) symptoms were observed to be significantly higher in the group with dry eye. Our study revealed that there was a significant association between dry eye and allergic rhinitis with positive skin-prick test results. There may be a possible link between dry eye and allergy.

A Study to Assess the Effectiveness of Warm Compress on level of Dry Eye among Elderly Adults in a selected Old Age Home, Mangalore

Dry eye syndrome is a common disorder of the tear film among elderly adults. Dry eye is caused by decreased tear production, excessive tear evaporation, and an abnormality in the production of mucus or lipids normally found in the tear layer, or a combination of these. Poor production of tears by the lacrimal gland may be a result of age, hormonal changes, or various autoimmune diseases, such as rheumatoid arthritis. Evaporative loss of the watery tear layer is usually a result of an insufficient overlying lipid layer. Dry eyes can usually be diagnosed by the symptoms alone. A slit lamp examination can be performed to diagnose dry eyes and to document any damage to the eye. A Schimer's test can measure the amount of moisture bathing the eye. Health care professionals have the responsibilities to minimise the level of dry eye among elderly adults by various measures such as warm compression, hygienic care, and dietary modification. Moreover, it minimizes the risk of infection and integrated treatment for any associated dry eye syndrome.