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.

Multimodal imaging of pre-Descemet corneal dystrophy

2019 ◽  
Vol 30 (5) ◽  
pp. 908-916 ◽  
Author(s):  
Munirah Alafaleq ◽  
Cristina Georgeon ◽  
Kate Grieve ◽  
Vincent M Borderie
Keyword(s):  
Optical Coherence Tomography ◽  
Confocal Microscopy ◽  
Multimodal Imaging ◽  
Case Series ◽  
Corneal Dystrophy ◽  
Spectral Domain ◽  
Optical Coherence ◽  
In Vivo Confocal Microscopy ◽  
Descemet Membrane

Purpose: The aim of this study was to assess structural and histological changes associated with pre-Descemet corneal dystrophy with multimodal in vivo imaging. Methods: Retrospective case series including eight corneas from four unrelated male patients with pre-Descemet corneal dystrophy characterized by the presence of punctiform gray opacities located just anterior to the Descemet membrane at slit-lamp examination of both eyes. In vivo confocal microscopy images were obtained in the central, paracentral, and peripheral corneal zones from the superficial epithelial cell layer down to the corneal endothelium in both eyes. Spectral domain optical coherence tomography scans (central and limbal zones) and mapping of both corneas were acquired. Results: Diffuse small extracellular stromal deposits, presence of enlarged hyperreflective keratocytes in the posterior stroma with either hyperreflective or hyporeflective intracellular dots, and presence of activated keratocytes in the very anterior stroma were observed in all corneas with in vivo confocal microscopy. Spectral domain optical coherence tomography scans showed a hyperreflective line anterior to Descemet’s membrane running from limbus to limbus and associated with a second thinner hyperreflective line just beneath Bowman’s layer. Fine hyperreflective particles were observed in the posterior, mid, and anterior stroma on optical coherence tomography scans. Conclusion: The clinical presentation and structural anomalies found in isolated sporadic pre-Descemet corneal dystrophy are in favor of a degenerative process affecting corneal keratocytes with no epithelial or endothelial involvement. The maximum damage is found just anterior to the Descemet membrane resulting in pre-Descemet membrane location of stromal opacities. Multimodal imaging of cornea reveals that the disorder affects the whole stroma and it permits better understanding of pre-Descemet corneal dystrophy pathophysiology together with ascertained diagnosis.

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.

Multimodal imaging in an idiopathic spontaneously absorbed cataractous lens: A rare case report

2019 ◽  
Vol 30 (3) ◽  
pp. NP11-NP13 ◽  
Author(s):  
Saurabh Deshmukh ◽  
Krati Gupta ◽  
Harsha Bhattacharjee
Keyword(s):  
Optical Coherence Tomography ◽  
Intraocular Lens ◽  
Multimodal Imaging ◽  
Rare Case ◽  
Anterior Segment ◽  
Optical Coherence ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Scheimpflug Imaging ◽  
Cataractous Lens

Purpose: To report an unusual and rare case of idiopathic spontaneous absorption of the cataractous lens and its multimodal imaging features. Methods: A 56-year-old female presented with a complaint of diminution of vision in both eyes (OU). Slit lamp examination of the right eye (OD) revealed Morgagnian cataract with a normal anterior segment. Slit lamp examination of the left eye (OS) revealed absorbed cataractous lens with intact lens capsule with clear visual axis. Fundus examination OS was unremarkable. No history of trauma, past ocular surgery or any ocular or systemic disease. Ultrasonography B-scan OU was unremarkable. Her blood examination was normal. Anterior segment optical coherence tomography showed increased anterior chamber depth OS. It also showed Morgagnian cataractous lens with nucleus in the bag OD and absorbed cataractous lens with thin adhered capsular bag OS. Scheimpflug imaging also showed decreased densitometry OS. She underwent successful phacoemulsification in OD with in-the-bag placement of intraocular lens. For OS with absorbed lens, she underwent phacoemulsification with anterior circular curvilinear capsulorhexis using a capsulotomy forceps. The cortical matter in the bag area was aspirated with implantation of intraocular lens in the ciliary sulcus over the intact capsule rim. Results: The patient underwent phacoemulsification with anterior continuous curvilinear capsulorhexis with intraocular lens placement in the ciliary sulcus OS. Conclusions: This case is first of its kind in the literature. The role of ultrasound B-scan, anterior segment optical coherence tomography, and Scheimpflug imaging in the preoperative evaluation of capsulolenticular status and subsequent successful management is discussed.

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.

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

In vivo in situ en face optical coherence tomography imaging of chick embryos

2009 ◽  
Author(s):  
Michael Leitner ◽  
Joana Castanheira ◽  
Luís Ferreira ◽  
Mónica Ferreira ◽  
Isabel Palmeirim ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Chick Embryos ◽  
Optical Coherence ◽  
Tomography Imaging ◽  
En Face ◽  
Optical Coherence Tomography Imaging

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.

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