scholarly journals Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy

2020 ◽  
Vol 11 (1) ◽  
pp. 120-126
Author(s):  
Pham Ngoc Dong ◽  
Le Xuan Cung ◽  
Tran Khanh Sam ◽  
Do Thi Thuy Hang ◽  
Doug D. Chung ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Novel Mutation ◽  
Family Members ◽  
Corneal Dystrophy ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Corneal Epithelial ◽  
Epithelial Phenotype ◽  
History Of ◽  
Characteristic Features

Meesmann epithelial corneal dystrophy (MECD) is a rare dominantly inherited disorder that is characterized by corneal epithelial microcysts and is associated with mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes. In this study, we report a novel mutation in the KRT12 gene in a Vietnamese pedigree with MECD. Slit-lamp examination was performed on each of the 7 recruited members of a Vietnamese family to identify characteristic features of MECD. After informed consent was obtained from each individual, genomic DNA was isolated from saliva samples and screening of KRT3and KRT12 genes was performed by Sanger sequencing. The proband, a 31-year-old man, complained of a 1-year history of eye irritation and photophobia. Slit-lamp examination revealed intraepithelial microcysts involving only the corneal periphery in each eye with clear central corneas and no stromal or endothelial involvement. Three family members demonstrated similar intraepithelial microcysts, but with diffuse involvement, extended from limbus to limbus. Sanger sequencing of KRT3 (exon 7) and KRT12 (exons 1 and 6) in the proband revealed a novel heterozygous KRT12 variant (c.1273G>A [p.Glu425Lys]) that was present in the three affected family members but was absent in the three family members with clear corneas. This study is the first report of a Vietnamese family affected with MECD, associated with an atypical peripheral corneal epithelial phenotype in the proband and a novel mutation in KRT12.

scholarly journals Identification of the FirstDe Novo UBIAD1Gene Mutation Associated with Schnyder Corneal Dystrophy

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Benjamin R. Lin ◽  
Ricardo F. Frausto ◽  
Rosalind C. Vo ◽  
Stephan Y. Chiu ◽  
Judy L. Chen ◽  
...  
Keyword(s):  
Family History ◽  
Missense Mutation ◽  
Protein Function ◽  
De Novo ◽  
Family Members ◽  
Corneal Dystrophy ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
The Family ◽  
Schnyder Corneal Dystrophy

Purpose.To report the identification of the firstde novo UBIAD1missense mutation in an individual with Schnyder corneal dystrophy (SCD).Methods.A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders. The proband’s parents, two sisters, and son were also examined and genomic DNA from all six individuals was collected. The exons and exon-intron boundaries ofUBIAD1were screened using Sanger sequencing. Identified mutations were screened for in 200 control chromosomes.In silicoanalysis predicted the impact of identified mutations on protein function and structure.Results.Slit lamp examination of the proband revealed findings consistent with SCD. Corneas of the family members appeared unaffected. Screening ofUBIAD1in the proband identified a novel heterozygous c.308C>T mutation, predicted to encode the missense amino acid substitution p.(Thr103Ile). This mutation was not identified in any of the family members or in 200 control chromosomes and was predicted to be damaging to normal protein function and structure.Conclusions.We present a novel heterozygousde novomissense mutation inUBIAD1, p.(Thr103Ile), identified in a patient with classic clinical features of SCD. This highlights the value of genetic testing in clinical diagnostic settings, even in the absence of a positive family history.

scholarly journals Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Anna Nowińska ◽  
Edyta Chlasta-Twardzik ◽  
Michał Dembski ◽  
Ewa Wróblewska-Czajka ◽  
Klaudia Ulfik-Dembska ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Case Report ◽  
Confocal Microscopy ◽  
Pediatric Patient ◽  
Corneal Dystrophy ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Corneal Dystrophies ◽  
Characteristic Features ◽  
Macular Corneal Dystrophy

Abstract Background Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. The majority of publications present the advanced form of the disease with a typical clinical demonstration. The initial signs and symptoms of different epithelial and stromal corneal dystrophies are not specific; therefore, it is very important to establish the early characteristic corneal features of these disorders that could guide the diagnostic process. Case presentation The main purpose of this study was to report the differential diagnosis of a pediatric patient with bilateral anterior corneal involvement suspected of corneal dystrophy. An 8-year-old male patient presented with asymptomatic, persistent, superficial, bilateral, diffuse, anterior corneal opacities. Slit lamp examination results were not specific. Despite the lack of visible stromal involvement on the slit lamp examination, corneal analysis based on confocal microscopy and optical coherence tomography revealed characteristic features of macular corneal dystrophy (MCD). The diagnosis of MCD was confirmed by CHST6 gene sequencing. The early corneal characteristic features of MCD, established based on the findings of this case report, include corneal astigmatism (not specific), diffuse corneal thinning without a pattern of corneal ectasia (specific), and characteristic features on confocal microscopy (specific), including multiple, dark, oriented striae at different corneal depths. Conclusions The clinical examination should be complemented with corneal imaging techniques, such as confocal microscopy and optical coherence tomography. In patients suspected of corneal dystrophy, genetic testing plays an important role in establishing the final diagnosis.

Progressive multifocal leukoencephalopathy in a patient with occult hypogammaglobulinemia experiencing bilateral visual impairment

2021 ◽  
pp. 112067212199053
Author(s):  
Sameera Hettipathirannahelage ◽  
Sidath Wijetilleka ◽  
Hugh Jewsbury
Keyword(s):  
Progressive Multifocal Leukoencephalopathy ◽  
Visual Impairment ◽  
Demyelinating Disease ◽  
Parietal Lobe ◽  
Previous History ◽  
White Matter Lesions ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
History Of ◽  
Ishihara Test

Introduction: Progressive multifocal leukoencephalopathy (PML) is a rare, lethal, demyelinating disease classically seen in profoundly immunosuppressed individuals. It is caused by intracerebral infection by John Cunningham polyomavirus (JCV). We report a rare case of PML in a man with presumed immunocompetence at presentation experiencing bilateral painless visual impairment. Case Description: A 60-year-old man with a 3-week history of bilateral painless visual impairment attended our ophthalmology department. Unusually, he navigated around the room well and was able to read 4 of 13 Ishihara test plates in spite of a best-corrected visual acuity of counting fingers at 1 m bilaterally. Slit lamp examination, routine blood tests and optical coherence tomography (OCT) of the maculae and discs were unremarkable. Diffuse hyperintense white matter lesions on T2-weighted magnetic resonance imaging of the brain and detection of JCV within the parietal lobe tissue obtained by biopsy confirmed PML. Additional investigations identified an underlying hypogammaglobulinaemia, which may have initiated PML. He received intravenous immunoglobulin but passed away 2 months after diagnosis. Conclusions: To our knowledge this case is one of only a handful worldwide to describe PML developing in a patient with presumed immunocompetence at presentation – there was no previous history of recurrent, chronic, or atypical infections. There has only been one other report of visual symptoms presenting as the primary complaint. The case illustrates the importance of ruling out organic, central nervous system pathology in patients presenting with visual loss and normal objective visual function tests such as slit lamp examination and OCT.

Ellipsoid layer restoration after Ozurdex® treatment in a patient with acute posterior multifocal placoid pigment epitheliopathy

2019 ◽  
pp. 112067211988359 ◽  
Author(s):  
Arnau Mora-Cantallops ◽  
M Dolores Pérez ◽  
Marcelino Revenga ◽  
Julio Jose González-López
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Optical Coherence ◽  
Dexamethasone Implant ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Intravitreal Dexamethasone Implant ◽  
History Of ◽  
Intravitreal Dexamethasone ◽  
Consequent Improvement

An atypical case of acute posterior multifocal placoid pigment epitheliopathy with a clear reappearance of the ellipsoid layer of the retina after Ozurdex® intravitreal implantation is presented. A 51-year-old woman reported a 3-week history of left eye photopsia. On slit-lamp examination, yellowish placoid lesions were found on her left eye fundus. Ancillary tests were performed. The patient was diagnosed as a left eye acute posterior multifocal placoid pigment epitheliopathy, and observational approach was decided. Later, the condition started to progress in an ampiginous manner and a decrease of visual acuity caused by an increase in number and size of the lesions was observed. As the disease was progressing with the conservative, observational approach, and the macula was menaced, an intravitreal dexamethasone implant was injected in the left eye with a consequent improvement of the visual acuity and lesion stabilization. The ellipsoid layer, unidentifiable inside the placoid lesions in previous optical coherence tomography tests, reappeared after the treatment. Intravitreal dexamethasone implants can be used to stabilize acute posterior multifocal placoid pigment epitheliopathy lesions and help resolve the condition. Spectral domain optical coherence tomography can also be useful for monitoring these lesions, as the ellipsoid layer may reappear upon resolution.

scholarly journals External ophthalmomyiasis by sheep botfly – a report from Sirmaur hills

2020 ◽  
Vol 18 (1) ◽  
pp. 64-66
Author(s):  
Anubhav Chauhan ◽  
◽  
Neha Gautam ◽  
Keyword(s):  
Foreign Body ◽  
Oestrus Ovis ◽  
Human Tissues ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Topical Antibiotics ◽  
Body Sensation ◽  
History Of ◽  
Conjunctival Inflammation ◽  
The Right

Introduction. Myiasis is caused by larvae of flies infesting animal or human tissues and organs. Aim. In this report we present 2 cases of external ophthalmomyiasis by sheep botfly. Description of the cases. We report a case of two patients who presented with a history of foreign body sensation in the left and the right eye respectively. Slit lamp examination revealed larvae of Oestrus ovis (sheep botfly). In both cases, there was no contact history with sheep or goats. Signs of conjunctival inflammation and corneal involvement were absent in both cases. In most of the previous reports, corneal and conjunctival inflammation was present. Conclusion. Treatment for external ophthalmomyiasis is based on larvae removal and application of topical antibiotics and steroids.

Graphite Particle in Cornea- An Incidental Finding

2021 ◽  
Author(s):  
Iva Rani Kalita
Keyword(s):  
Graphite Particle ◽  
Incidental Finding ◽  
Anterior Segment ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Active Intervention ◽  
The Past ◽  
Entry Wound ◽  
History Of ◽  
Temporal Quadrant

An eleven years old female came to Ophthalmology OPD for normal checkup. Her vision was 6/6 in BE's. On Slit Lamp Examination of Anterior Segment, LE Cornea showed crystalline greyish deposits scattered in infero-temporal quadrant mostly suggestive of Pencil Graphite. The rest details were absolutely normal. No entry wound could be made out. The patient and her parents gave no History of any pencil trauma in the past even after. As the particles were inert and patient had no symptom, no active intervention was done (Figures 1 and 2).

CLINICAL PROFILE OF PAEDIATRIC PATIENTS OF VERNAL KERATOCONJUNCTIVITIS PRESENTING TO THE TERTIARY HEALTH CARE CENTRE

2021 ◽  
pp. 4-6
Author(s):  
Jitendra Kumar ◽  
Rashmi Kumari ◽  
Apoorva Jain
Keyword(s):  
Health Care ◽  
Prospective Observational Study ◽  
Dust Exposure ◽  
Vernal Keratoconjunctivitis ◽  
Age Group ◽  
Slit Lamp ◽  
Care Centre ◽  
Health Care Centre ◽  
Slit Lamp Examination ◽  
History Of

PURPOSE - to study the clinical prole of patients of vernal keratoconjunctivitis presenting to the tertiary health care centre. METHODS- This was a prospective observational study that involved 100 eyes of 50 patients with vernal keratoconjunctivitis complaining of itching, burning and ropy discharge. Slit lamp examination was done in all the patients. RESULTS-There were 37 males and 13 females and the age group taken was 1 to 15 years. 4 patients belonged to the age group of 1 to 5 years, out of which all 4 were males. 32 patients belonged to age group of 6 to 11 years, out of which 24 were males and 8 were females. 14 patients belonged to the age group of 12 to 15 years, out of which 9 were males and 5 were females. On slit lamp examination cobblestone papillae were seen in 46% patients, pseudogerontoxon was seen in 32% patients, Horner Tranta's spots were seen in 18% patients and shield ulcer was seen in 4% patients. CONCLUSION-VKC is a common form of allergic conjunctivitis and the disease tends to occur in males of 6 to 11 years age group. Most common is palpebral form followed by mixed and bulbar forms. Some cases showed history of dust exposure, atopy and other allergic conditions.

scholarly journals Phthirus pubis Infestation of the Eyelids Presenting as Chronic Blepharoconjunctivitis in a 6-Year-Old Girl: A Case Report

2018 ◽  
Vol 9 (1) ◽  
pp. 30-34 ◽  
Author(s):  
Viola Andin Dohvoma ◽  
Steve Robert Ebana Mvogo ◽  
Paul Jean Adrien Atangana ◽  
Pamela Nyasse ◽  
Emilienne Epee ◽  
...  
Keyword(s):  
Case Report ◽  
Petroleum Jelly ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Topical Antibiotics ◽  
Parasitological Examination ◽  
Ocular Irritation ◽  
Mechanical Removal ◽  
History Of

Purpose: To report the case of Phthirus pubis infestation of the eyelashes presenting as chronic blepharoconjunctivitis. Case Report: A 6-year-old girl presented with a 2-month history of blepharoconjunctivitis unresponsive to topical antibiotics in the left eye. Slit-lamp examination revealed the presence of nits and adult parasites on the eyelashes. Parasitological examination confirmed adult forms and nits of Phthirus pubis. There was no evidence of infestation elsewhere. Outcome was favourable with mechanical removal and application of petroleum jelly. Conclusion: Careful slit-lamp examination of the eyelashes should be done in all patients presenting with ocular irritation symptoms.

scholarly journals Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK

2021 ◽  
Vol 14 (6) ◽  
pp. 795-799
Author(s):  
Xue Jiang ◽  
Keyword(s):  
Polymerase Chain Reaction Amplification ◽  
Direct Sequencing ◽  
Corneal Stroma ◽  
Corneal Dystrophy ◽  
Chinese Family ◽  
Slit Lamp ◽  
Gene Screening ◽  
Tgfbi Gene ◽  
History Of

AIM: To reveal the importance of TGFBI gene screening for candidates with a family history of corneal disease or granular opacities in corneal stroma before refractive surgery. METHODS: A 37-year-old male (proband) underwent bilateral laser-assisted in situ keratomileusis (LASIK) in 2002, with right vision decreased significantly in 2006. The proband and other 32 members of the family underwent a detailed ophthalmic examination, including vision acuity, intraocular pressure, slit-lamp photograph, fundus examination, optical coherence tomography (OCT) of cornea, and in vivo confocal microscope (IVCM) and peripheral blood was used for genomic DNA extraction. Seventeen TGFBI gene exons were analyzed via polymerase chain reaction amplification and direct sequencing. RESULTS: Slit-lamp, IVCM, and OCT images showed that a large amount of dense and confluent granular opaque were seen at the interfaces of the flap and remnant stromal bed in right and light degree in left eye. Sanger sequencing showed that there was a 371G>A mutation (CGC>CAC) in exon 4, which indicated that he harbored a heterozygote R124H mutation, identifying the diagnosis of Avellino corneal dystrophy (ACD). Among the other 32 family members, 6 of them harbored the identical mutation to that in the proband. CONCLUSION: ACD will worsen and recur after LASIK. Preoperative gene-screening for TGFBI mutations is important in diagnosing ACD.

scholarly journals Analysis of Corneal Refractive Surgery in Soldiers from a Specific Region, China

2020 ◽  
Author(s):  
Wei-Yang Shao ◽  
Hong-Zhen Jia ◽  
Bei Cui ◽  
Li-Qun Cao ◽  
Li-Wei Qin ◽  
...  
Keyword(s):  
Physical Examination ◽  
Refractive Surgery ◽  
Specific Region ◽  
Laser In Situ Keratomileusis ◽  
Low Grade ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
History Of ◽  
Corneal Refractive Surgery ◽  
The Impact

Abstract Background: Increasing numbers of young people of the appropriate age are joining the army after vision improvement by refractive surgery. However, there is little research on the long-term influence of this population and the potential impact on mission capability. Methods: A cluster sampling survey was conducted. The respondents were soldiers who planned to apply for military academies in a specific region of China in 2020. According to the Physical Examination Standards for Citizens Eligible for Enlistment and the Physical Examination Law for Citizens Eligible for Enlistment, a medical history inquiry, vision examination, color vision examination, slit-lamp examination, and personal interview were performed to obtain information regarding the patients' preoperative myopia, corneal refractive surgery method used, operation time, and symptoms of postoperative discomfort. Results: Among the 1263 soldiers who underwent the physical examination, 435 soldiers (862 eyes) had a history of corneal refractive surgery, accounting for 34.44%. Among the soldiers with a history of corneal refractive surgery, the treatment of preoperative low-grade myopia accounted for 41.61%, moderate-grade myopia accounted for 43.68%, and high-grade myopia accounted for 14.71%. Regarding the surgical methods used, small incision lenticule extraction (SMILE) accounted for 23.44%, excimer laser in situ keratomileusis (LASIK) accounted for 66.67%, and trans-epithelial photorefractive keratectomy (PRK) accounted for 9.89%. The postoperative time was 2.76 ± 1.01 years. Soldiers with uncorrected visual acuity (UCVA) ≤ 4.9 accounted for 3.94%, and soldiers with UCVA > 4.9 accounted for 96.06%. Slit-lamp examination found no surgical complications affecting visual function, such as dry eye syndrome, corneal infection, corneal haze (above grade 3), and corneal epithelial implantation. Conclusion: The proportion of soldiers who have undergone corneal refractive surgery has significantly increased, and LASIK is the main surgical method used. The impact of complications related to corneal refractive surgery on the army should be emphasized, and health education and reasonable training should be strengthened to avoid eye-related diseases.

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