sclerocornea

OBJECTIVE: To describe multiple congenital ocular anomalies in three litters of Jack Russell Terrier puppies. ANIMALS STUDIED: Seven purebred Jack Russell Terrier puppies from three related litters and their four parents. PROCEDURES: Medical records of the puppies and their parents were evaluated. All dogs underwent a complete ophthalmic examination, followed by bilateral ocular ultrasonography in two of the puppies with complete corneal opacity...

PURPOSE: To investigate the correlation between swept-source anterior segment optical coherence tomography (AS-OCT) and ultrasound biomicroscopy (UBM) in congenital corneal opacity (CCO). METHODS: All children with unilateral or bilateral congenital corneal opacities who underwent examination under anesthesia (EUA) and anterior segment optical coherence tomography (AS-OCT) imaging from January 1, 2022, to December 31, 2022, were included. Main outcome measures were corneal and anterior segment evaluation and correlation of UBM and AS-OCT findings...

BACKGROUND: Genetic information is stored in the bases of double-stranded DNA. However, the integrity of DNA molecules is constantly threatened by various mutagenic agents, including pollutants, ultraviolet light (UV), and medications. To counteract these environmental damages, cells have established multiple mechanisms, such as producing molecules to identify and eliminate damaged DNA, as well as reconstruct the original DNA structures. Failure or insufficiency of these mechanisms can cause genetic instability...

Objective: To investigate the long-term outcomes of corneal grafts after penetrating keratoplasty(PK) for congenital corneal opacity(CCO) in children aged 0 to 5 years and the related influencing factors. Methods: It was a retrospective series case study. Data of 39 children (55 eyes) who underwent PK surgery due to CCO in the keratology Department of Beijing Tongren Hospital from April 2014 to April 2018 and were followed up for more than 30 months were collected. Among them, there were 17 males (43.6%) and 22 females (56...

Anterior Segment Dysgenesis (ASD) represents a spectrum of rare, congenital disorders that pose significant challenges to ophthalmological management due to their complex and heterogeneous nature. The management of ASD becomes particularly complex when associated with other serious ocular conditions. This report discusses the case of a 4-year-old girl diagnosed with ASD exhibiting a combination of sclerocornea, aphakia, aniridia, and secondary glaucoma. Owing to the complexity of such condition, a multi-disciplinary approach is required...

PURPOSE/AIM: To report the birth prevalence and natural history of congenital corneal opacities among a population-based cohort of children. MATERIALS AND METHODS: The medical records of patients <5 years diagnosed with a congenital onset corneal opacity while residing in Olmsted County, Minnesota, from January 1, 1977, through December 31, 2016, were retrospectively reviewed. RESULTS: Fourteen patients were diagnosed with a congenital corneal opacity during the 40-year study period for a birth prevalence of 1 in 5188 live births...

Cornea plana (CP) is a rare ocular condition existing in two distinct clinical and hereditary forms: a milder, autosomal dominant type I and a more severe, autosomal recessive type II. The condition is more commonly found in Finnish, Saudi, and Czech families. We report three brothers from a consanguineous marriage that presented with complaints of decreased vision of varying degrees. All three of them have blue, thick, and hazy corneas with shallow anterior chamber depths. The additional features of CP type II were seen in the older two brothers including arcus lipoids, ill-demarcated limbus, and an accommodative squint...

BACKGROUND: According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. This study aims to exhibit unusual phenotypes of a novel missense variant of PAX6 from a Chinese pedigree. METHODS: Ophthalmic examinations including slit-lamp biomicroscopy, gonioscopy, ophthalmic ultrasound, ultrasonic biomicroscopy, optical coherence tomography, wide-field fundus imaging, and visual field test were performed to evaluate the clinical manifestations...

The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS). The lysosomal storage disorders are associated with a varied ocular manifestation including bilateral corneal clouding which is often mild and stippled except in few cases like Hunter syndrome where cornea is often clear. We report a case of MPS Type I S (MPS 1) with near-normal visual acuity and bilateral dense corneal clouding with sparing of central 3 mm of cornea...

INTRODUCTION: To report a family with severe ocular disorder caused by double gene variants in causative genes of autosomal dominant cataracts, GJA8 and CRYGC . CASE PRESENTATION: A 5-month-old boy with poor vision and enophthalmos was referred to our hospital. Further ocular examination showed horizontal nystagmus, iris abnormalities with pinpoint pupils, and extreme microphthalmia with axial right and left eye lengths of 13.48 mm and 13.75 mm, respectively. Digenic heterozygous variants (c...

Histone lysine methyltransferase and demethylase enzymes play a central role in chromatin organization and gene expression through the dynamic regulation of histone lysine methylation. Consistent with this, genes encoding for histone lysine methyltransferases (KMTs) and demethylases (KDMs) are involved in complex human syndromes, termed congenital regulopathies. In this report, we present several lines of evidence for the involvement of these genes in developmental ocular phenotypes, suggesting that individuals with structural eye defects, especially when accompanied by craniofacial, neurodevelopmental and growth abnormalities, should be examined for possible variants in these genes...

To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). A retrospective chart review was conducted to identify patients with a diagnosis of MLS syndrome seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, AS optical coherence tomography, and molecular testing were reviewed. Five female patients (10 eyes) were identified. One eye was anophthalmic, one was in a status post penetrating keratoplasty, and eight eyes presented with congenital corneal opacity (CCO)...

A patient complained of progressive visual acuity decline in the left eye for 3 years was admitted. The appearance of the patient was bilateral microcornea. After ocular ultrasonography, ultrasound biomicroscopy, etc, the patient was diagnosed as sclerocornea of the left eye with open-angle glaucoma. Trabeculectomy of the left eye was performed after drug treatment failed, and there were no surgical complications. The intraocular pressure of the left eye was normal and the anterior chamber was well formed 6 months after surgery...

PURPOSE: To describe the presentation and treatment outcomes of a cohort of children with primary aphakia (PA). METHODS: Clinical photographs and ultrasound biomicroscopy (UBM) images of children presenting with sclerocornea and undetermined anterior segment dysgenesis between July 2017 and December 2020 were reviewed retrospectively. Children who had no crystalline lens visible on UBM were included. RESULTS: A total of 124 UBM images were captured for 124 children with cloudy corneas...

BACKGROUND: The younger the children are at the time of corneal transplantation, the worse the survival prognosis of the graft. PREOPERATIVE CONSIDERATIONS: Preoperative considerations are significant in terms of accurate parental education, ensuring adherence to treatment and choosing the appropriate surgical time frame (amblyopia versus graft failure, compliance of the patient). Parental education must include the reduced visual prognosis in young children, exceptions being later acquired corneal pathologies such as inflammatory corneal scars (herpes) and keratoconus...

BACKGROUND: This study aims to describe outcomes of posteriorly-placed glaucoma drainage devices (GDD) with concurrent endoscopic vitrectomy in pediatric patients with glaucoma and corneal opacification. METHODS: This retrospective case series identified patients under 18 years of age who underwent posteriorly-placed GDD implantation with concurrent endoscopic vitrectomy between 2012 and 2021. Data collected included ocular diagnoses, prior intraocular surgeries, type and position of GDD, surgical complications, and additional surgeries...

INTRODUCTION: Congenital microphthalmos can either occur alone (simple microphthalmos) or be associated with other ocular malformations, such as sclerocornea or cataract (complex microphthalmos). As this is a rare condition, there are no uniform recommendations for treatment. MATERIAL AND METHODS: Retrospective case series of 103 patients or a total of 114 eyes with congenital microphthalmos, with reporting of age, sex, visual acuity, pupil reaction, axial length, horizontal width of the palpebral fissure, type of therapy performed and complications...

Dandy-Walker Syndrome (D-WS) is a rare disorder with an incidence of 1%-2% of all central nervous system anomalies. The diagnosis can be challenging, especially in the prenatal period. Here, we present an extremely rare case of D-WS associated with bilateral congenital cataracts. A 36 weeks and 6 days old male baby presented with a Dandy-Walker variant associated with bilateral congenital cataract. Ophthalmological examination revealed microphthalmos and congenital cataracts present in both eyes with sclerocornea, iris coloboma, and zone 3 retinopathy of prematurity involving only the right eye...

No abstract text is available yet for this article.

The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are unknown. We identified FOXE3 variants in individuals with congenital eye malformations and carried out in vitro functional analysis on selected alleles. Sixteen new recessive and dominant families, including six novel variants, were identified. Analysis of new and previously reported genetic and clinical data demonstrated a broad phenotypic range with an overlap between recessive and dominant disease...