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Molecular Genetics and Metabolism May 2019Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase.... (Review)
Review
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase. Patients with Gaucher disease generally have a variety of clinical manifestations ranging from visceral to neurological involvement and some develop ocular involvement. The most commonly affected organs include the spleen, liver, and bone. Moreover, patients often have hepatosplenomegaly, thrombocytopenia, anemia, and bone involvement related to deficient glucocerebrosidase and the subsequent accumulation of glucosylceramide and glucosylsphingosine in cells. A subset of patients develops neurological manifestations, including seizures, myoclonic epilepsy, and progressive neurodegeneration. Eye involvement tends to be less common and presents with diverse clinical findings. These rare and variable ocular manifestations, involving the vitreous, retina, cornea, uvea, conjunctiva and eye movements, can pose a diagnostic challenge for clinicians, especially those not familiar with the disorder. In this review, we explore the different ophthalmologic findings reported in patients with Gaucher disease, aiming to facilitate diagnosis and expedite treatment for patients presenting with ocular manifestations of this rare disorder.
Topics: Corneal Opacity; Eye; Eye Diseases; Eye Movements; Gaucher Disease; Humans; Mutation
PubMed: 31047801
DOI: 10.1016/j.ymgme.2019.02.002 -
Eye & Contact Lens Nov 2019To investigate the effects of contact lens (CL) on the frequency of pinguecula, and the relationship between dry eye disease and pinguecula.
PURPOSE
To investigate the effects of contact lens (CL) on the frequency of pinguecula, and the relationship between dry eye disease and pinguecula.
METHODS
Two hundred and 33 cases of soft CL wearers and 230 age-matched nonwearers were enrolled in the study. Schirmer I test (ST) scores and tear break-up time (TBUT) were determined in all participants. A questionnaire including ocular surface disease index (OSDI), age, sex, and duration of CL wear was implemented to the participants before the examination.
RESULTS
The prevalence of pinguecula was 27.8% (n: 65) in the CL group and 26.5% (n: 61) in the control group. There was no significant difference between the groups (P=0.841). The prevalence of pinguecula increased with age in both groups. There was no significant difference in the prevalence of pinguecula when users were divided into three groups according to the duration of CL wear (P=0.575). The TBUT scores were lower, and the OSDI scores were higher in the CL group. The TBUT scores were lower in patients with pinguecula in both groups. The OSDI scores were higher in the CL group. There was no significant difference regarding the OSDI scores between patients with pinguecula and healthy participants in the CL group; however, OSDI scores were significantly higher in patients with pinguecula in control group. There were no significant differences in the ST scores between the groups, and between patients with pinguecula and healthy participants.
CONCLUSION
This is the second study that evaluates the effects of soft CL wearing on pinguecula prevalence. We found that CL wearing does not affect the prevalence of pinguecula. Considering the OSDI scores in patients with pinguecula in the CL group, CL may suppress the irritant symptoms of pinguecula.
Topics: Adult; Aging; Contact Lenses, Hydrophilic; Dry Eye Syndromes; Female; Humans; Male; Pinguecula; Prevalence; Surveys and Questionnaires
PubMed: 30801268
DOI: 10.1097/ICL.0000000000000586 -
Journal of Ophthalmology 2018In this study, we evaluated corneal epithelial integrity and tear film parameters in patients with inflamed pinguecula and compared these findings with their fellow eyes...
PURPOSE
In this study, we evaluated corneal epithelial integrity and tear film parameters in patients with inflamed pinguecula and compared these findings with their fellow eyes and with healthy controls.
METHODS
We evaluated the fluorescein staining properties and performed the tear break-up time (TBUT) test and Schirmer 2 test (ST2) measurements of 32 patients who had symptomatic unilateral inflamed pinguecula and compared the results with their fellow eyes and also with an age- and sex-matched control group.
RESULTS
Twenty-three eyes (72%) in the inflamed pinguecula group and 1 eye (3.1%) in the fellow eyes group had punctate epithelial staining (PES) or epithelial defect on the nasal cornea ( < 0.001). There was no PES or epithelial defect in the control group. Eyes with inflamed pinguecula ( = 32) had lower TBUT and ST2 values compared to the control group ( 32) ( < 0.001 for both). Fellow eyes ( 32) also had lower TBUT and ST2 values compared to the control group (=0.003 for both). There was no difference in the TBUT and ST2 results between the eyes with inflamed pinguecula and fellow eyes (=0.286 and =0.951, respectively).
CONCLUSION
A high percentage of eyes with inflamed pinguecula had nasal corneal epithelial staining or epithelial defect. We also found lower TBUT and ST2 results in eyes with inflamed pinguecula and the fellow eyes compared to the control group. These findings may be important in pathogenesis of pinguecula and pterygium and also in uncovering their relation.
PubMed: 30515317
DOI: 10.1155/2018/2474173 -
Dermatologic Clinics Oct 2018This article describes the present literature on dermoscopy of conjunctiva and shows the results of a dermoscopy study of 147 conjunctival tumors. Melanomas were... (Review)
Review
This article describes the present literature on dermoscopy of conjunctiva and shows the results of a dermoscopy study of 147 conjunctival tumors. Melanomas were characterized by a heavy pigmentation, irregular dots, and a higher prevalence of gray color compared with nevi. Squamous cell carcinomas had peculiar hairpin and glomerular vessels. Primary acquired melanoses were characterized by regularly distributed light brown dots. A large part of nevi had small cysts.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Carcinoma, Squamous Cell; Child; Conjunctival Neoplasms; Dermoscopy; Female; Humans; Male; Melanoma; Melanosis; Middle Aged; Nevus, Pigmented; Pinguecula; Pterygium; Young Adult
PubMed: 30201153
DOI: 10.1016/j.det.2018.05.011 -
Turkish Journal of Ophthalmology Jun 2018A 21-year-old male patient with no history of systemic disease or drug use presented to our clinic with redness and pain in the right eye. Best corrected visual acuity...
A 21-year-old male patient with no history of systemic disease or drug use presented to our clinic with redness and pain in the right eye. Best corrected visual acuity was 20/20 in both eyes. Inflamed pinguecula was observed on slit-lamp examination and the patient was prescribed ophthalmic nepafenac eye drops. After instilling the drops that day and the next day, the patient presented again due to pruritus and rash. Upon consultation with the dermatology department, the patient was diagnosed with drug-induced allergic urticaria and the nepafenac drops were discontinued. Although urticaria has been reported as a side effect after systemic non-steroidal anti-inflammatory drug (NSAID) use, such a reaction has not been reported with an ophthalmic NSAID and ours is the first reported case of urticaria following ophthalmic nepafenac use. This unique case highlights the fact that ophthalmologists must also keep urticaria in mind as a potential side effect when prescribing this drug.
PubMed: 29988879
DOI: 10.4274/tjo.78614 -
Mycologia 2018The anther smuts of the genus Microbotryum are known from host plant species belonging to the Caryophyllaceae, Dipsacaceae, Lamiaceae, Lentibulariaceae, Montiaceae, and...
The anther smuts of the genus Microbotryum are known from host plant species belonging to the Caryophyllaceae, Dipsacaceae, Lamiaceae, Lentibulariaceae, Montiaceae, and Primulaceae. Of these, the anther smuts on Caryophyllaceae, in particular on Silene spp., are best known because they include model organisms studied in many disciplines of fungal biology. For Microbotryum species parasitic on Caryophyllaceae, a high degree of host specificity was revealed and several cryptic species were described. In contrast, the host specificity within Microbotryum pinguiculae occurring in anthers of different Pinguicula species (Lentibulariaceae) has not been investigated in detail until now. The anther smuts on Pinguicula alpina, P. villosa, and P. vulgaris, on which M. pinguiculae was described, were analyzed using nuc rDNA ITS1-5.8S-ITS2 and nuc rDNA 28S D1-D2 sequences and morphology to determine if they belong to one polyphagous species or rather represent three host-specific species. The results of the morphological investigations revealed no decisive differences between the anther smuts on different Pinguicula species. However, genetic divergence and molecular phylogenetic analyses, which split the specimens according to host plant species, supported host specificity of the anther smuts on different Pinguicula species. Accordingly, in addition to Microbotryum pinguiculae s. str. on Pinguicula vulgaris, M. alpinum sp. nov. on P. alpina from Europe and M. liroi sp. nov. on P. villosa from Asia are described and illustrated.
Topics: Asia; Basidiomycota; Cluster Analysis; DNA, Fungal; DNA, Ribosomal; DNA, Ribosomal Spacer; Europe; Flowers; Genetic Variation; Microscopy; Microscopy, Electron, Scanning; Phylogeny; Pinguecula; RNA, Ribosomal, 28S; RNA, Ribosomal, 5.8S; Sequence Analysis, DNA; Spores, Fungal
PubMed: 29792777
DOI: 10.1080/00275514.2018.1451697 -
Indian Journal of Dermatology,... 2018Psoriasis is a common disorder worldwide. The prevalence of psoriasis in Egypt, an African country with a Caucasian population, ranges 0.19-3%. Despite this relatively...
BACKGROUND
Psoriasis is a common disorder worldwide. The prevalence of psoriasis in Egypt, an African country with a Caucasian population, ranges 0.19-3%. Despite this relatively high prevalence of psoriasis, there are no epidemiologic data regarding the burden of associated eye affection. Determining the magnitude of the problem could help in offering better integrated health services.
AIM
The purpose of this study was to evaluate eye involvement in a sample of Egyptian psoriatic patients.
PATIENTS AND METHODS
This case-control study included 100 patients with psoriasis and 100 age and sex matched healthy controls. Psoriasis extent and severity was graded by psoriasis area and severity index (PASI). Complete ophthalmological examination and tests for dry eye were performed to all subjects.
RESULTS
The mean age of the psoriasis group was 50.7 ± 14.3 years. Thirty eight percent of the cases were females. The mean duration of psoriasis was 10.1 ± 7.5 years. Psoriasis patients had more conjunctival injection (n = 40, P = 0.035), more pinguecula (n = 38, P = 0.048) than controls. Ocular surface disease index (OSDI), tear breakup time (TBUT), Schirmer I, and Rose Bengal staining showed statistically significant positive results in the psoriasis group.
CONCLUSION
This is the first report on the prevalence of eye comorbidities in Egyptian psoriatic patients. Dry eyes were more common with psoriasis, particularly the erythrodermic type. Other ocular findings were not statistically significantly different except for conjunctival injection and pinguecula.
Topics: Adult; Aged; Aged, 80 and over; Case-Control Studies; Dry Eye Syndromes; Egypt; Eye Diseases; Female; Humans; Male; Middle Aged; Prevalence; Psoriasis; Young Adult
PubMed: 29067934
DOI: 10.4103/ijdvl.IJDVL_1239_15 -
Transplantation Proceedings Sep 2017The aim of the study was to perform complete ophthalmic examinations in patients after renal transplantation to determine ocular alterations and condition of the eyes....
The aim of the study was to perform complete ophthalmic examinations in patients after renal transplantation to determine ocular alterations and condition of the eyes. Moreover, ophthalmic findings were correlated with certain clinical characteristics related to transplantation such as post-operative renal functions and immunosuppressive regimen. The study was performed on 84 eyes of 42 patients who had received a renal transplant at least 6 months earlier. All patients underwent a complete ophthalmologic examination. In addition, in 33 (78.6%) patients peripapillary retinal nerve fiber layer (RNFL) thickness was determined using optical coherence tomography (Stratus OCT, Zeiss, Germany), which is a unique finding among renal transplantation patients. Recipients received immunosuppressive therapy consisting of tacrolimus, mycophenolate mofetil, and corticosteroid. Of 42 patients, 19 (45%) were women and 23 (55%) were men. The age of the patients ranged from 26 to 74 years, the mean age was 53.4 years. At least one ocular abnormality could be detected in 37 patients (88%), including impaired visual acuity (n = 31, 74%), keratoconjunctivitis sicca (n = 6, 14.3%), pinguecula (n = 3, 7.1%), arcus lipoides (n = 1, 2.4%), cataracts (n = 24, 57.1%), glaucoma (n = 2, 5%), retinal drusen (n = 6, 14.3%), and hypertensive or atherosclerotic retinopathy (n = 22, 52.4%). Twenty-five patients (75.8%) have reduced RNFL thickness. Cataract formation was positively correlated with age and usage of methylprednisolone. Moreover, RNFL thickness loss was correlated with transplantation duration and postoperative infections. Our study suggests that ocular disorders are frequent among renal transplantation patients. Besides immunosuppression and postoperative infection, aging is a high-risk factor in such cases.
Topics: Adult; Aged; Cross-Sectional Studies; Eye Diseases; Female; Humans; Immunosuppression Therapy; Kidney Transplantation; Male; Middle Aged; Nerve Fibers; Optic Nerve; Postoperative Complications; Retina; Tomography, Optical Coherence
PubMed: 28838433
DOI: 10.1016/j.transproceed.2017.06.016 -
Journal of Ophthalmic & Vision Research 2017To evaluate the risk factors for pterygium in the dry, high altitude province of Ilam, Iran.
PURPOSE
To evaluate the risk factors for pterygium in the dry, high altitude province of Ilam, Iran.
METHODS
The study included patients who presented to ophthalmology clinic. The patients were divided into two groups: 210 diagnosed with pterygium or pinguecula (unilateral or bilateral), and 210 healthy controls. Demographic variables, living environment, disease type, disease laterality, family history of pterygium as well as history of smoking, working outdoors, baking, welding, ocular conditions (trachoma keratopathy, glaucoma, refractive error, and dry eye), use of glasses, ultraviolet light exposure, and systemic conditions were collected from both groups and compared for risk assessment.
RESULTS
Univariate analysis revealed that age ( = 0.001), sex ( = 0.001), family history of pterygium ( = 0.001), positive history of smoking ( < 0.001), history of baking ( = 0.045), welding experience ( < 0.001), severe blepharitis ( < 0.001), hyperopia ( < 0.001), dry eye ( < 0.001), hypertension ( < 0.001), ischemic heart disease ( < 0.001), obesity ( = 0.038), and primary residential area ( = 0.025) had significant associations with increased incidence of pterygium. However, in multivariate analysis, only family history of pterygium, cigarette smoking, history of baking, age, and severe blepharitis were significantly associated with the incidence of pterygium (<0.001, <0.001, = 0.002, = 0.023 and = 0.002, respectively).
CONCLUSION
This study tested more risk factors related to the prevalence of pterygium compared to previous studies. It also confirmed previously established risk factors. Family history of pterygium and blepharitis were risk factors that have not been reported in previous studies and were found to be significantly associated with the development of pterygium in this study.
PubMed: 28791059
DOI: 10.4103/jovr.jovr_85_16 -
International Medical Case Reports... 2017To describe an unusual case of unilateral, chronic symptoms and signs of dry eye, and recurrent episodes of ocular irritation related to pinguecula, which were...
PURPOSE
To describe an unusual case of unilateral, chronic symptoms and signs of dry eye, and recurrent episodes of ocular irritation related to pinguecula, which were refractory to prior medical treatments, successfully treated with argon laser photocoagulation.
METHODS
A 36-year-old man presented with an elevated yellowish mass on his conjunctiva in his left eye, which was associated with dry eye symptoms and general discomfort, such as "tightening sensation" and "stiffness". On clinical assessment, the left eye revealed a mild conjunctival injection, a fluorescein break-up time (FBUT) of 3.5 s, an abnormal fluorescein staining, and a Schirmer test of 5 mm. Optical coherence tomography (OCT) imaging evidenced a height at the most elevated point of the pinguecula of 740 µm. The patient underwent argon-laser photocoagulation.
RESULTS
After 2 weeks postoperatively, no residual of pinguecula or focal injection of the conjunctiva was detected by slit-lamp biomicroscopy and there was a significant improvement of clinical symptoms and signs: Schirmer test and FBUT increased to 12 mm and >10 s, respectively, and fluorescein staining was absent. OCT imaging revealed a smooth structure of conjunctival contour, with a height of 404 µm. According to an ex juvantibus line of reasoning, definitive diagnosis was pinguecula-related dry eye disease.
CONCLUSION
Based on the concept that tear film instability and inflammation are two key components of the pathogenesis of dry eye, we coined the term "pinguecula-related dry eye disease," which can be successfully treated by a complete, accurate removal of the lesion with argon laser photocoagulation.
PubMed: 28769593
DOI: 10.2147/IMCRJ.S138786