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Anterior segment dysgeneses are congenital ocular anomalies that involve the cornea, iris, anterior chamber, iridicorneal angle structures, and ciliary body. Management highly varies and often depends on the extent of cornea and lens involvement and glaucoma diagnosis. A coordinated approach between pediatric ophthalmology, cornea, retina, and glaucoma specialists may be required to minimize complications and optimize results. A review of the clinical findings of primary congenital glaucoma, congenital aniridia, Axenfeld-Rieger syndrome, Peters anomaly, sclerocornea, congenital ectropion uvea, and megalocornea/megalophthalmos will be followed by the current management of these diseases. For optimal outcomes, these diseases often require a multi-specialty approach incorporating glaucoma, cornea, and retina specialists with pediatric ophthalmologists. However, there is a critical shortage of pediatric ophthalmologists and few adult sub-specialists have an interest and desire to incorporate children into their practices. A greater emphasis on pediatric eye diseases during training and exposure to anterior segment dysgeneses is needed to provide the optimal care for these rare conditions. [ABSTRACT FROM AUTHOR]

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. Despite successful initial surgical interventions on the left eye, eye was lost due to subsequent endophthalmitis and retinal detachment, resulting in a decision to adopt a conservative, non-surgical approach for the right eye. Although a series of therapeutic interventions have been performed, the final visual outcome was poor, demonstrating the complexity and seriousness of such cases. This case serves as a reminder of the need for regular follow-up, prompt recognition, and management of potential complications. Further research is necessary to optimize the outcomes in patients with similar presentations. [ABSTRACT FROM AUTHOR]

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. They were managed by the correction of refractive errors through spectacles and detailed counseling with follow-up visits to look for progressive complications. The management is mainly centered around optically or surgically correcting the developmental anomalies. This is complimented with proper genetic counseling and regular follow-up visits to look for and manage complications. There are, however, novel therapies that can be considered in these patients including corneal transplants or corneal stromal stem cellular therapies. [ABSTRACT FROM AUTHOR]

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. Preoperative and final visual acuity, intraocular pressure (IOP), number of glaucoma medications, and exam findings were also recorded. Surgical data included type and position of GDD, Success was defined as IOP between 5-21 mmHg without visually devastating complication or need for additional glaucoma surgery.Results: Ten patients (14 eyes) with sclerocornea (6), Peters Anomaly (4), corneal decompensation from increased IOP (3), and corneal scar (1) underwent combined endoscopic vitrectomy with posteriorly-placed GDD (Baerveldt (10 eyes), Ahmed (4 eyes)) at 4.6 ± 5.8 years of age. Four eyes of 3 patients remained successful at final follow-up, while 10 eyes of 7 patients required 2.4 ± 1.3 additional surgeries for glaucoma (7) or hypotony (3). Kaplan Meier analysis demonstrated 1- and 2-year survival rates of 36% and 18%, respectively. At final follow-up (3.7 ± 2.4 years), after an average of 4.4 ± 2.4 glaucoma surgeries, 13 of 14 eyes had obtained IOP control on significantly fewer (p<0.0001) IOP-lowering medications. Additional complications included retinal detachment (2), chronic corneal graft failure (2), phthisis (1) and band keratopathy (1).Conclusions: Management of glaucoma in pediatric eyes with corneal opacification is challenging and often requires multiple surgeries. A combined endoscopic vitrectomy and posteriorly placed GDD is a viable technique to establish aqueous humor outflow. Although the success rate is low, this surgical approach may be useful in ultimately obtaining IOP control and preserving vision in these complex eyes. [ABSTRACT FROM AUTHOR]

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This project expands the disease spectrum for mutations in GJA8 to include total sclerocornea, rudimentary lenses and microphthalmia, in addition to this gene's previously known role in isolated congenital cataracts. Ophthalmic findings revealed bilateral total sclerocornea in 3 probands, with small abnormal lenses in 2 of the cases, and cataracts and microphthalmia in 1 case. Next-generation sequencing revealed de novo heterozygous mutations affecting the same codon of GJA8: (c. 281G>A; p.( Gly94Glu) and c. 280G>C; p.( Gly94Arg)) in 2 of the probands, in addition to the c. 151G>A; p.( Asp51Asn) mutation we had previously identified in the third case. In silico analysis predicted all of the mutations to be pathogenic. These cases show that deleterious, heterozygous mutations in GJA8 can lead to a severe ocular phenotype of total sclerocornea, abnormal lenses, and/or cataracts with or without microphthalmia, broadening the phenotype associated with this gene. GJA8 should be included when investigating patients with the severe anterior segment abnormality of total sclerocornea. [ABSTRACT FROM AUTHOR]

Background: A microdeletion in the chromosome 22q11.2 (DiGeorge or velocardiofacial syndrome) is the most common human deletion syndrome. Patients with 22q11.2 deletion may have a wide range of ocular findings but severe ocular involvement is uncommon. Here, we describe a 2-year-old boy who had growth retardation, developmental delay, right renal agenesis, ventricular septal defect and severe bilateral ocular anomalies. Materials and methods: The systemic and ocular findings and cranial magnetic resonance imaging study results were reviewed. Fluorescence in situ hybridization analysis was performed on his peripheral blood. Results: The patient presented with the oculodigital sign. On examination, he had severe right microphthalmia with no light perception and his left eye could not fix and follow. The left eye had anterior segment dysgenesis, mild sclerocornea, corneal staphyloma and congenital aphakia. Systemic findings included growth deficiency, microcephaly, micrognathia, ventricular septal defect, atrial septal defect and right renal agenesis. Fluorescence in situ hybridization analysis of this patient was significant for a heterozygous deletion covering DiGeorge critical region 2 and spanning a 250 kb region in the 22q11.2 locus. Conclusion: The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, anterior segment dysgenesis and congenital aphakia. Corneal staphyloma might have resulted from the oculodigital phenomenon or increased intraocular pressure. [ABSTRACT FROM AUTHOR]

We report anterior segment abnormalities in both eyes of a 33-week-old fetus endorsing the diagnosis of MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome. After abortion, the fetus was examined by a standard pediatric autopsy that included macroscopic and microscopic examination of both eyes. Postmortem findings included craniofacial stigmata (such as hypertelorism, a flat nose and low-set ears) and an agenesis of the corpus callosum. Array comparative genomic hybridization revealed a deletion of the short arm of the X chromosome (region Xp22.2 to p22.32). Ophthalmopathologic examination of the eyes revealed microphthalmia with anterior segment developmental anomalies, in particular sclerocornea and Peters' anomaly, respectively. General pathology findings plus the ocular findings allowed the diagnosis of MIDAS syndrome. A discussion of differential diagnoses is provided. This case report indicates that ophthalmopathologic investigation of fetal eyes can be of great value for the further classification of syndromes. [ABSTRACT FROM AUTHOR]

Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at 22q11.2. Bedeschi et al. [2010] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 mutation. Because sclerocornea had been described in DiGeorge-velo-cardio-facial syndrome but not in VDEGS, they suggested that the ocular abnormalities were caused by the 22q11.2 microdeletion. We report on a 23-year-old male who presented with bilateral sclerocornea and the VDGEGS phenotype who was subsequently found to be homozygous for a 17 bp deletion in exon 4 of SCARF2. The occurrence of bilateral sclerocornea in our patient together with that of Bedeschi et al., suggests that the full VDEGS phenotype may include sclerocornea resulting from homozygosity or compound heterozygosity for loss of function variants in SCARF2. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

To immunolocalize corneal keratan sulfate (KS) and its core protein lumican, aggrecan, type I and type III collagens in sclerocornea specimens and compare their expression and distribution to age-matched healthy corneas and scleras. Sclerocornea specimens ( n = 3) and age-matched normal corneoscleral rim specimens ( n = 3) were studied by light microscopy and histochemically. KS, lumican, aggrecan, type I and type III collagens were immunolocalized in the specimens using indirect immunofluorescence. The fluorescence intensity in each specimen was scored from 0 to 4, with 0 representing no fluorescence and 4 representing intense fluorescence. The sclerocornea specimens showed histologic features typical of sclerocornea. KS and lumican immunolabeling in the corneal stroma in sclerocornea was decreased, whereas aggrecan immunolabeling was increased compared to that seen in normal cornea and normal sclera. KS and lumican staining was more intense in the posterior part of sclerocornea specimens, whereas aggrecan staining was distributed throughout the stroma. The staining intensity and distribution of type I collagen in sclerocornea was similar to that seen in normal cornea. Type III collagen was faint to absent in both normal cornea and sclerocornea but strong labeling was noted in normal sclera. The immunophenotype of sclerocornea is similar to that of normal cornea but with reduced labeling intensity of KS and lumican and increased labeling intensity of aggrecan. This change could potentially contribute to the abnormal fibril assembly in sclerocornea. [ABSTRACT FROM AUTHOR]

The Goldenhar anomaly (GA) is a heterogeneous field defect of uncertain cause and wide variability of expression, characterized by facial phenotypes, usually asymmetric and unilateral, accompanied by various combinations and gradations of cardiac, skeletal, renal, and central nervous system defects. We report the pathologic findings in a 5-month-old boy with GA, tracheal stenosis, and left unilateral sclerocornea. To the best of our knowledge this is the first description of sclerocornea in a patient with GA. [ABSTRACT FROM AUTHOR]

A girl was born with sclerocornea of the right eye, corneal staphyloma of the left eye and lumbar myelomeningocele. The myelomeningocele was repaired soon after birth. The corneal staphyloma was perforated during infancy. She received keratoplasty and achieved light perception. Her right kidney revealed multicystic dysplasia and was non-functioning at birth. She had neurogenic bladder, and her renal function deteriorated gradually. Peters plus syndrome was diagnosed based on anterior ocular segment anomalies, short stature, developmental delay and characteristic face. Anterior ocular segment anomalies are rare findings, but seem to be occasionally associated with spina bifida and renal anomalies. Myelomeningocele and chronic renal failure in patients with Peters plus syndrome have not been reported to our knowledge. [ABSTRACT FROM AUTHOR]

The developmental birth eye disorder of iris is known as aniridia. Heterozygous PAX6 gene, which causes human aniridia and small eye in mice, is located on chromosome 11p13. The variability had been documented between the affected individuals within the families, is due to genotypic variation. Haploinsufficiency renders PAX6 allele non-functional or amorphic, however it presents hypomorphic or neomorphic alleles. India is not a well-studied ethnic group, hence the focus on congenital aniridia gene analysis supports the literature and the phenotypic association were analysed both in sporadic as well as familial. The consistent association of truncating PAX6 mutations with the phenotype is owing to non-sense-mediated decay (NMD). It is presumed that the genetic impact of increased homozygosity and heterozygocity in Indian counter part arises as the consequence of consanguineous marriages. The real fact involved in congenital aniridia with other related phenotypes with PAX6 mutations are still controversial. [ABSTRACT FROM AUTHOR]