Corneal Dystrophy, Congenital Stromal

Last update 08 May 2025

Basic Info

Synonyms

CONGENITAL STROMAL CORNEAL DYSTROPHY, CORNEAL DYSTROPHY, CONGENITAL STROMAL, CSCD

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Introduction

Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.

Clinical Trials associated with Corneal Dystrophy, Congenital Stromal

NCT02834260

/ CompletedPhase 2IIT

Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone: Tolerance and Safety Pilot Study

Immune rejection episodes after penetrating keratoplasty occur in 30% of patients and constitute one of the main factors reducing graft survival. They mainly occur during the first 18 months. Prevention usually relies on a topical treatment with dexamethasone or prednisolone for standard risk patients. Eye drops are instilled three times a day during at least 3 months then tapered.
OZURDEX is an absorbable small implant that releases a total of 700 micrograms dexamethasone during several months. It is indicated for intravitreal injection to treat macular edema.
The investigators hypothesized that this implant could be used after subconjunctival injection during corneal graft, to prevent immune rejection and avoid repeated eyedrop instillations.

Start Date10 Jan 2017

Sponsor / Collaborator

Centre Hospitalier Universitaire de Saint-Etienne

100 Clinical Results associated with Corneal Dystrophy, Congenital Stromal

100 Translational Medicine associated with Corneal Dystrophy, Congenital Stromal

0 Patents (Medical) associated with Corneal Dystrophy, Congenital Stromal

Literatures (Medical) associated with Corneal Dystrophy, Congenital Stromal

01 Dec 2024·European Journal of Human Genetics

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant

Article

Author: Davidson, Alice E ; Gardner, Jessica C ; Sanchez-Pintado, Beatriz ; Gardner, Jessica C. ; Tuft, Stephen J ; Lišková, Petra ; Cheetham, Michael E. ; Tuft, Stephen J. ; Zarouchlioti, Christina ; Braddock, Freddie L. ; Bhattacharyya, Nihar ; Cheetham, Michael E ; Thaung, Caroline ; Szabo, Anita ; Young, Robert D ; Costa, Marcos ; Hardcastle, Alison J ; Hardcastle, Alison J. ; Young, Robert D. ; Braddock, Freddie L ; Davidson, Alice E.

AbstractCorneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree with eight affected individuals in three generations. Affected individuals had diffuse central stromal opacity, with reduced visual acuity in older family members. Histopathology of affected cornea tissue removed during surgery revealed mild stromal textural alterations with alcianophilic deposits. Whole genome sequence data were generated for four affected individuals. No rare variants (MAF < 0.001) were identified in established corneal dystrophy genes. However, a novel heterozygous missense variant in exon 4 of SPARCL1, NM_004684: c.334G > A; p.(Glu112Lys), which is predicted to be damaging, segregated with disease. SPARC-like protein 1 (SPARCL1) is a secreted matricellular protein involved in cell migration, cell adhesion, tissue repair, and remodelling. Interestingly, SPARCL1 has been shown to regulate decorin. Heterozygous variants in DCN, encoding decorin, cause autosomal dominant congenital stromal corneal dystrophy, suggesting a common pathogenic pathway. Therefore, we performed immunohistochemistry to compare SPARCL1 and decorin localisation in corneal tissue from an affected family member and an unaffected control. Strikingly, the level of decorin was significantly decreased in the corneal stroma of the affected tissue, and SPARCL1 appeared to be retained in the epithelium. In summary, we describe a novel autosomal dominant corneal stromal dystrophy associated with a missense variant in SPARCL1, extending the phenotypic and genetic heterogeneity of inherited corneal disease.

01 Aug 2024·Environmental Research

Rural revival: Navigating environmental engineering and technology

Review

Author: Zheng, Xiangqun ; Hou, Jiaqi ; Yang, Siyuan ; Zhu, Changxiong ; Zhu, Jie ; Geng, Bing ; Luo, Liangguo ; Liu, Liyuan

The necessity for global engineering and technological solutions to address rural environmental challenges is paramount, particularly in improving rural waste treatment and infrastructure. This study presents a comprehensive quantitative analysis of 3901 SCI/SSCI and 3818 Chinese CSCD papers, spanning from 1989 to 2021, using tools like Derwent Data Analyzer and VOSviewer. Our key findings reveal a significant evolution in research focus, including a 716.67% increase in global publications from 1995 to 2008 and a 154.76% surge from 2015 to 2021, highlighting a growing research interest with technological hotspots in rural revitalization engineering and agricultural waste recycling. China and the USA are pivotal, contributing 784 and 714 publications respectively. Prominent institutions such as the Chinese Academy of Sciences play a crucial role, particularly in fecal waste treatment technology. These insights advocate for enhanced policy development and practical implementations to foster inclusive and sustainable rural environments globally.

01 Jun 2024·Cornea

Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy

Article

Author: Knappskog, Per M. ; Flockerzi, Fidelis ; Berger, Tim ; Hasenfus, Andrea ; Daas, Loay ; Bredrup, Cecilie ; Flockerzi, Elias ; Gatzioufas, Zisis ; Käsmann-Kellner, Barbara ; Seitz, Berthold ; Stang, Espen

Purpose:The purpose of this study was to highlight characteristic clinical and microscopic findings and report the long-term follow-up of pediatric excimer laser-assisted penetrating keratoplasty (excimer-PKP) for congenital stromal corneal dystrophy (CSCD).Methods:A 2-year-old Greek child presented with CSCD at our department. Clinical examination showed bilateral flake-like whitish corneal opacities affecting the entire corneal stroma up to the limbus. Genetic testing identified a mutation of the decorin gene (c.962delA). The variant was not present in the parents and represented a de novo mutation. The uncorrected visual acuity was 20/100 in both eyes. Excimer-PKP (8.0/8.1 mm) was performed on the right eye at the age of 2.5 years and on the left eye at the age of 3 years. Postoperatively, alternating occlusion treatment was performed.Results:The light microscopic examination demonstrated a disorganized extracellular matrix of the corneal stroma characterized by a prominent irregular arrangement of stromal collagen lamellae with large interlamellar clefts containing ground substance, highlighted by periodic acid–Schiff- and Alcian blue–positive reaction detecting acid mucopolysaccharides. Electron microscopy showed disorganization and caliber variation of collagen lamellae and thin filaments within an electron-lucent ground substance. The postoperative course was unremarkable. Both grafts remained completely clear 14 years postoperatively. Corneal tomography showed moderate regular astigmatism with normal corneal thickness. The corrected distance visual acuity was 20/25 in both eyes.Conclusions:Excimer-PKP for CSCD might be associated with excellent long-term results and a good prognosis, particularly when the primary surgery is performed at a very young age. However, this requires close postoperative follow-up examinations by an experienced pediatric ophthalmologist to avoid severe amblyopia.

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Corneal Dystrophy, Congenital Stromal

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