Ocular Features and Clinical Approach to Cataract and Corneal Refractive Surgery in Patients with Myotonic Dystrophy

Moshirfar, Majid; Webster, Court R; Seitz, Tanner S; Ronquillo, Yasmyne C; Hoopes, Phillip C

doi:10.2147/opth.s372633

Cited by 11 publications

(8 citation statements)

References 34 publications

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“…Vacuoles were observed in the cytoplasm. Corneal histopathological and TEM ultrastructural changes of the recurrent cases further confirmed that the recurrent CD caused by R124L mutation had characteristic structural changes, which might be related to clinical symptoms and gene mutations [1,3] . Limitations of this study: First, this study only observed the corneal tissues of recurrent cases and did not compare them of the recurrent corneal epithelial cells.…”

Section: Discussionmentioning

confidence: 92%

“…15, No. 9, Sep.18, 2022 www.ijo.cn Tel: 8629-82245172 8629-82210956 Email: ijopress@163.com anatomic site, CD is sub-classified: epithelial/sub-epithelial, epithelial-stromal, stromal, and endothelial dystrophy [3] . CD with R124L mutation belongs to epithelial-stromal CD [3] .…”

Section: Introductionmentioning

confidence: 99%

“…9, Sep.18, 2022 www.ijo.cn Tel: 8629-82245172 8629-82210956 Email: ijopress@163.com anatomic site, CD is sub-classified: epithelial/sub-epithelial, epithelial-stromal, stromal, and endothelial dystrophy [3] . CD with R124L mutation belongs to epithelial-stromal CD [3] . The gene mutation sites of CD have been confirmed to be in the transforming growth factor B-induced (TGFBI or BIGH3) gene on chromosome 5q31 [4][5][6][7] .…”

Section: Introductionmentioning

confidence: 99%

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Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Fu¹,

Duan²,

Zhang³

et al. 2022

Int J Ophthalmol

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AIM: To investigate the histological characteristics and ultrastructure of recurrent Chinese R124L mutated corneal dystrophy after keratoplasty. METHODS: The subjects were enrolled from a Chinese family of corneal dystrophy with R124L heterozygous gene mutation and with a history of consanguineous marriage. Normal corneal samples were used as controls. RESULTS: In this family, 2 patients (3 eyes) underwent penetrating keratoplasty (PKP) and 2 patients (4 eyes) underwent lamellar keratoplasty (LKP). They had recurrence at 33.5±3.0 (range 30-36)mo after keratoplasty. Among them, 1 patient (1 eye) underwent PKP again and 1 patient (2 eyes) underwent LKP again. In the R124L mutated recurrent corneal dystrophy, the corneal turbidity was mainly distributed from the upper corneal cortex to the anterior stroma; the corneal epithelium surface was rougher and more uneven; and, the corneal erosions were larger. Hematoxylin-eosin staining showed that the thickness of the corneal epithelium was uneven; the arrangement of the epithelial cells was disordered; and, some corneal epithelial cells were swollen. The results of Congo red staining, Masson’s trichrome staining and Periodic acid-Schiff staining were positive, while that of Alcian blue staining was negative. Under a transmission electron microscope, deposition of high electron density substances between epithelial and basal cells, and, apoptosis of basal cells were observed. Many high electron density depositions were observed in the sub-epithelial and anterior corneal matrix. CONCLUSION: In the Chinese family of recurrent corneal dystrophy with R124L gene mutation, the corneal epithelia of the recurrent cases are rougher, and the corneal depositions are extracellular amyloid fibrin.

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Section: Discussionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Fu¹,

Duan²,

Zhang³

et al. 2022

Int J Ophthalmol

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“…The term CD was coined in 1890 by Arthur Groenouw and Hugo Biber, and the efforts of Ernst Fuchs, Wilhelm Uhthoff, and Yoshiharu Yoshida solidified the foundation of the understanding of these diseases. 1 Corneal dystrophies can be divided by anatomical classification and IC3D classification. They are again subdivided into many types.…”

Section: Introductionmentioning

confidence: 99%

Atypical presentation of macular corneal dystrophy

Parthasarathi

Venipriya²,

Prashanth³

et al. 2022

IJCEO

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A 65-year old male patient presented to our ophthalmology OPD for regular check up. On examination visual acuity of the right eye was 6/24 improving to 6/12p with pinhole and left eye was 6/18 improving with pinhole 6/9. On examination of anterior segment both eyes cornea showed multiple white round deposits at deep posterior stroma and Descemet membrane – endothelium complex scattered circumferentially in the peripheral cornea and the central cornea clear and lens showed Immature cataract. Fundus examination was within normal limits. A differential diagnosis of stromal corneal dystrophy or endothelial corneal dystrophy was made. By exclusion, we came to the diagnosis of macular corneal dystrophy.

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“…C ongenital stromal corneal dystrophy (CSCD, Online Mendelian Inheritance in Man (OMIM) 610048), previously referred to as Congenital hereditary stromal dystrophy, is a dominantly inherited corneal disorder characterized by diffuse bilateral white flake-like stromal opacifications that typically presents at birth and results in corneal clouding and progressive visual impairment. 1,2 CSCD is a rare disease, with only 7 families previously reported in the literature, of which 5 families were genetically confirmed as CSCD. The first reported family, from France, was described by Turpin and Serane in 1939.…”

mentioning

confidence: 99%

Novel DCN Mutation in Armenian Family With Congenital Stromal Corneal Dystrophy

Williams

Chung

Hovakimyan

et al. 2022

Cornea

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Purpose: Congenital stromal corneal dystrophy (CSCD) is a rare congenital, dominantly inherited disorder characterized by diffuse stromal opacification associated with mutations in the decorin gene (DCN). As only 5 families with genetically confirmed CSCD have been reported, the identification of a novel pedigree provides the opportunity to better characterize the phenotype and genetic basis.Methods: An Armenian family with individuals in 4 consecutive generations demonstrated clinical features consistent with CSCD. Consented individuals underwent slit lamp examination, optical coherence tomography, and confocal microscopy. Genomic DNA was collected from saliva and all coding and adjacent intronic regions of DCN were sequenced. In silico analysis was performed for identified mutation(s). Excised corneal tissue underwent light, electron microscopic, and immunohistochemical evaluation.Results: Affected individuals demonstrated bilateral, diffuse, panstromal corneal opacification. Three of the 6 individuals diagnosed with CSCD underwent genetic analysis; all demonstrated a novel heterozygous frameshift deletion in exon 8 of DCN (p.His317Thrfs*11), predicted to cause a 33 amino acid truncation and to be damaging and disease causing by SIFT and MutationTaster. Light and electron microscopic examination of an excised cornea demonstrated increased corneal thickness, stromal scarring, keratocyte loss, and an irregularity of lamellar collagen spacing and fibril formation. Immunofluorescent examination demonstrated increased DCN immunostaining, predominantly in the widened interlamellar spaces. Conclusions:We report only the sixth pedigree with genetically confirmed CSCD, associated with a novel DCN frameshift mutation. The clinical evaluation, multimodal imaging, and histopathologic assessment in this family with CSCD broaden our understanding of this rare corneal disease.

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Ocular Features and Clinical Approach to Cataract and Corneal Refractive Surgery in Patients with Myotonic Dystrophy

Cited by 11 publications

References 34 publications

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Atypical presentation of macular corneal dystrophy

Novel DCN Mutation in Armenian Family With Congenital Stromal Corneal Dystrophy

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