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.

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 Multimodal Imaging Features of Schnyder Corneal Dystrophy

2020 ◽  
Vol 2020 ◽  
pp. 1-10
Author(s):  
Wassim Ghazal ◽  
Cristina Georgeon ◽  
Kate Grieve ◽  
Nacim Bouheraoua ◽  
Vincent Borderie
Keyword(s):  
Optical Coherence Tomography ◽  
Cross Sections ◽  
Multimodal Imaging ◽  
Corneal Dystrophy ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
En Face ◽  
Schnyder Corneal Dystrophy ◽  
Corneal Crystals

Objective. To describe the multimodal imaging of Schnyder corneal dystrophy. Methods. Seven eyes of seven patients (5 female and 2 male patients) aged 52 to 92 years were included in this prospective observational study. Diagnosis of SCD was confirmed by histology after keratoplasty. In vivo multimodal imaging consisted of spectral domain-optical coherence tomography with cross sections, en face scans, corneal pachymetry, and epithelial mapping, and in vivo confocal microscopy was recorded. Ex vivo full-field optical coherence tomography scans of two corneal buttons were analyzed. The seven corneal buttons obtained during penetrating or deep anterior lamellar keratoplasty were processed for light microscopy. Results. Slit-lamp examination showed central stromal opacities, arcus lipoides, and midperipheral haze. Corneal crystals were found in 2 out of 7 eyes. SD-OCT cross sections and en face scans showed diffuse hyperreflectivity of the anterior, mid, and posterior stroma with a maximum in the anterior stroma, hyporeflective stromal striae, and epithelial hyperreflectivity. Central corneal thickness ranged from 507 to 635 μm. IVCM revealed hyperreflective deposits in the epithelium and throughout the stroma, thin subepithelial nerves, and needle-shaped and rectangular crystals. Keratocyte nuclei were rare or undetectable. FF-OCT scans confirmed the presence of small round and needle-shaped hyperreflective deposits in the epithelium and stroma. Histology revealed vacuolization of the basal epithelial cells and empty interlamellar stromal vacuoles. Conclusion. High-resolution multimodal imaging demonstrates the characteristic features of SCD which involve both the corneal epithelium and stroma, and it provides diagnosis confirmation even in eyes with no visible corneal crystals at slit-lamp examination.

Late-onset malignant glaucoma

2020 ◽  
Vol 3 ◽  
pp. 1
Author(s):  
Ramiro José Daud ◽  
Horacio Freile ◽  
Mauricio Freile ◽  
Soledad Mariano
Keyword(s):  
Intraocular Pressure ◽  
Case Report ◽  
Acute Pain ◽  
Late Onset ◽  
Slit Lamp ◽  
Normal Range ◽  
Slit Lamp Examination ◽  
Complete Occlusion ◽  
Malignant Glaucoma ◽  
The Right

A case report on a 49-year-old female with diagnoses of ocular hypertension in her left eye (LE) treated with 250 mg/day acetazolamide for 2 years. During the slit-lamp examination, complete occlusion of both iridocorneal angles was detected. Intraocular pressure (IOP) was 10 and 35 mmHg in the right eye and LE, respectively. Phacotrabeculectomy was performed in the LE. After 1 month of the procedure, the patient developed a slowly progressive miopization from −1 to −3 diopters (D) the following months. Approximately 3 months after surgery, the patient developed an episode of acute pain, athalamia, and IOP 45 mmHg in her LE. Late-onset malignant glaucoma was suspected and the patient was treated with topical hypotensive and cycloplegic agent until a prompt vitrectomy was performed. Deepening of the anterior chamber and restoration of IOP to normal range was obtained after surgery.

scholarly journals Optical coherence tomography image in gelatinous drop-like corneal dystrophy: case report

2012 ◽  
Vol 75 (5) ◽  
pp. 356-357 ◽  
Author(s):  
Otávio de Azevedo Magalhães ◽  
Samuel Rymer ◽  
Diane Ruschel Marinho ◽  
Sérgio Kwitko ◽  
Isabel Habeyche Cardoso ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Case Report ◽  
Corneal Dystrophy ◽  
Optical Coherence Tomography Image ◽  
Optical Coherence ◽  
Tomography Image

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 Multimodal Assessment of Corneal Thinning Using Optical Coherence Tomography, Scheimpflug Imaging, Pachymetry, and Slit-Lamp Examination

Cornea ◽  
2017 ◽  
Vol 36 (4) ◽  
pp. 425-430 ◽  
Author(s):  
Julius T. Oatts ◽  
Jeremy D. Keenan ◽  
Tova Mannis ◽  
Tom M. Lietman ◽  
Jennifer Rose-Nussbaumer
Keyword(s):  
Optical Coherence Tomography ◽  
Optical Coherence ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Multimodal Assessment ◽  
Scheimpflug Imaging ◽  
Corneal Thinning

scholarly journals Use of Fourier-Domain Optical Coherence Tomography to Evaluate Anterior Stromal Opacities in Donor Corneas

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Matthew R. Bald ◽  
Christopher Stoeger ◽  
Joshua Galloway ◽  
Maolong Tang ◽  
Jeffrey Holiman ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
High Resolution ◽  
Corneal Opacity ◽  
Fourier Domain ◽  
Optical Coherence ◽  
Slit Lamp ◽  
Eye Bank ◽  
Slit Lamp Examination ◽  
Corneal Opacities ◽  
Donor Corneas

Purpose. To evaluate Fourier-domain optical coherence tomography (FD-OCT) as an adjunct to traditional slit lamp examination of donor corneas with suspected Anterior Stromal Opacities.Methods. Seven corneas suspected of having anterior stromal opacities by slit lamp examination were evaluated with FD-OCT. Each cornea was evaluated to confirm the presence of opacity and, if present, the depth of opacity was measured.Results. The opacity depth ranged from 82 μm to 624 μm. The initial slit lamp impressions of five of the seven corneas were confirmed by OCT. In two corneas, the OCT findings were different from the initial slit lamp impressions. Slit lamp examination of the first cornea gave the impression of anterior stromal scarring, but OCT showed that the opacity was limited to the epithelium. Slit lamp examination of the second cornea suggested opacity limited to the epithelium, but OCT identified significant sub-Bowman's scarring. In all cases, the Eye Bank Technicians reported that the location and depth of corneal opacity were more sharply defined by OCT than by slit lamp.Conclusion. The high resolution of OCT makes it easier to determine the location of corneal opacities compared to slit lamp examinations. This enhanced visualization can improve decisions regarding transplant suitability of donor corneas.

Sign in / Sign up

Export Citation Format

Share Document