RESUMEN
Congenital corneal staphyloma is a rare congenital malformation with guarded visual potential. The cornea is opaque, markedly ectatic, and lined by uveal tissue with a variety of associated anterior segment abnormalities. In this case report, the detailed histopathology of this condition is highlighted with an unusual finding of the malformed lens. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e28-e32.].
Asunto(s)
Segmento Anterior del Ojo , Córnea , Enfermedades de la Córnea , Humanos , Lactante , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/diagnóstico por imagen , Córnea/patología , Córnea/anomalías , Enfermedades de la Córnea/diagnóstico , Enfermedades de la Córnea/congénito , Anomalías del Ojo/diagnósticoRESUMEN
Purpose: Axenfeld-Rieger syndrome (ARS) is characterized by ocular anomalies including posterior embryotoxon, iridocorneal adhesions, corectopia/iris hypoplasia, and developmental glaucoma. Although anterior segment defects and glaucoma contribute to decreased visual acuity, the role of potential posterior segment abnormalities has not been explored. We used high-resolution retinal imaging to test the hypothesis that individuals with ARS have posterior segment pathology. Methods: Three individuals with FOXC1-ARS and 10 with PITX2-ARS completed slit-lamp and fundus photography, optical coherence tomography (OCT), OCT angiography, and adaptive optics scanning light ophthalmoscopy (AOSLO). Quantitative metrics were compared to previously published values for individuals with normal vision. Results: All individuals demonstrated typical anterior segment phenotypes. Average ganglion cell and inner plexiform layer thickness was lower in PITX2-ARS, consistent with the glaucoma history in this group. A novel phenotype of foveal hypoplasia was noted in 40% of individuals with PITX2-ARS (but none with FOXC1-ARS). Moreover, the depth and volume of the foveal pit were significantly lower in PITX2-ARS compared to normal controls, even excluding individuals with foveal hypoplasia. Analysis of known foveal hypoplasia genes failed to identify an alternative explanation. Foveal cone density was decreased in one individual with foveal hypoplasia and normal in six without foveal hypoplasia. Two individuals (one from each group) demonstrated non-foveal retinal irregularities with regions of photoreceptor anomalies on OCT and AOSLO. Conclusions: These findings implicate PITX2 in the development of the posterior segment, particularly the fovea, in humans. The identified posterior segment phenotypes may contribute to visual acuity deficits in individuals with PITX2-ARS.
Asunto(s)
Segmento Anterior del Ojo/anomalías , Enfermedades de la Córnea , Anomalías del Ojo , Enfermedades Hereditarias del Ojo , Glaucoma , Humanos , Retina , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Enfermedades Hereditarias del Ojo/diagnóstico , Enfermedades Hereditarias del Ojo/genética , Glaucoma/diagnóstico , Glaucoma/genéticaRESUMEN
Recent studies have uncovered that noncoding sequence variants may relate to Axenfeld-Rieger syndrome (ARS), a rare developmental anomaly with genetic heterogeneity. However, how these genomic regions are functionally and structurally associated with ARS is still unclear. In this study, we performed genome-wide linkage analysis and whole-genome sequencing in a Chinese family with ARS and identified a heterozygous deletion of about 570 kb (termed LOH-1) in the intergenic sequence between paired-like homeodomain transcription factor 2 (PITX2) and family with sequence similarity 241 member A. Knockout of LOH-1 homologous sequences caused ARS phenotypes in mice. RNA-Seq and real-time quantitative PCR revealed a significant reduction in Pitx2 gene expression in LOH-1-/- mice, while forkhead box C1 expression remained unchanged. ChIP-Seq and bioinformatics analysis identified a potential enhancer region (LOH-E1) within LOH-1. Deletion of LOH-E1 led to a substantial downregulation of the PITX2 gene. Mechanistically, we found a sequence (hg38 chr4:111,399,594-111,399,691) that is on LOH-E1 could regulate PITX2 by binding to RAD21, a critical component of the cohesin complex. Knockdown of RAD21 resulted in reduced PITX2 expression. Collectively, our findings indicate that a potential enhancer sequence that is within LOH-1 may regulate PITX2 expression remotely through cohesin-mediated loop domains, leading to ARS when absent.
Asunto(s)
Segmento Anterior del Ojo , Anomalías del Ojo , Enfermedades Hereditarias del Ojo , Proteína del Homeodomínio PITX2 , Proteínas de Homeodominio , Factores de Transcripción , Animales , Femenino , Humanos , Masculino , Ratones , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/metabolismo , ADN Intergénico/genética , Elementos de Facilitación Genéticos/genética , Anomalías del Ojo/genética , Enfermedades Hereditarias del Ojo/genética , Proteínas de Homeodominio/genética , Proteínas de Homeodominio/metabolismo , Ratones Noqueados , Linaje , Factores de Transcripción/genética , Factores de Transcripción/metabolismoRESUMEN
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD.
Asunto(s)
Secuenciación del Exoma , Factor de Transcripción PAX6 , Humanos , Factor de Transcripción PAX6/genética , Masculino , Femenino , Anomalías del Ojo/genética , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/patología , Fenotipo , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/patología , Mutación , Oftalmopatías/genética , Oftalmopatías/diagnóstico , Oftalmopatías/congénitoRESUMEN
Ocular malformations (OMs) arise from early defects during embryonic eye development. Despite the identification of over 100 genes linked to this heterogeneous group of disorders, the genetic cause remains unknown for half of the individuals following Whole-Exome Sequencing. Diagnosis procedures are further hampered by the difficulty of studying samples from clinically relevant tissue, which is one of the main obstacles in OMs. Whole-Genome Sequencing (WGS) to screen for non-coding regions and structural variants may unveil new diagnoses for OM individuals. In this study, we report a patient exhibiting a syndromic OM with a de novo 3.15 Mb inversion in the 6p25 region identified by WGS. This balanced structural variant was located 100 kb away from the FOXC1 gene, previously associated with ocular defects in the literature. We hypothesized that the inversion disrupts the topologically associating domain of FOXC1 and impairs the expression of the gene. Using a new type of samples to study transcripts, we were able to show that the patient presented monoallelic expression of FOXC1 in conjunctival cells, consistent with the abolition of the expression of the inverted allele. This report underscores the importance of investigating structural variants, even in non-coding regions, in individuals affected by ocular malformations.
Asunto(s)
Anomalías del Ojo , Microftalmía , Humanos , Factores de Transcripción/genética , Microftalmía/genética , Segmento Anterior del Ojo/anomalías , Anomalías del Ojo/genética , Alelos , Factores de Transcripción Forkhead/genética , MutaciónRESUMEN
AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.
Asunto(s)
Aniridia , Opacidad de la Córnea , Gemelos Monocigóticos , Síndrome WAGR , Tumor de Wilms , Humanos , Femenino , Gemelos Monocigóticos/genética , Síndrome WAGR/genética , Aniridia/genética , Aniridia/complicaciones , Tumor de Wilms/genética , Tumor de Wilms/complicaciones , Lactante , Opacidad de la Córnea/genética , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Enfermedades en Gemelos/genética , Neoplasias Renales/genética , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/complicacionesRESUMEN
Axenfeld-Rieger Syndrome (ARS) type 1 is a rare autosomal dominant condition characterized by anterior chamber anomalies, umbilical defects, dental hypoplasia, and craniofacial anomalies, with Meckel's diverticulum in some individuals. Here, we describe a clinically ascertained female of childbearing age with ARS for whom clinical targeted sequencing and deletion/duplication analysis followed by clinical exome and genome sequencing resulted in no pathogenic variants or variants of unknown significance in PITX2 or FOXC1. Advanced bioinformatic analysis of the genome data identified a complex, balanced rearrangement disrupting PITX2. This case is the first reported intrachromosomal rearrangement leading to ARS, illustrating that for patients with compelling clinical phenotypes but negative genomic testing, additional bioinformatic analysis are essential to identify subtle genomic abnormalities in target genes.
Asunto(s)
Segmento Anterior del Ojo , Anomalías del Ojo , Enfermedades Hereditarias del Ojo , Proteína del Homeodomínio PITX2 , Femenino , Humanos , Segmento Anterior del Ojo/anomalías , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Anomalías del Ojo/patología , Enfermedades Hereditarias del Ojo/diagnóstico , Enfermedades Hereditarias del Ojo/genética , Enfermedades Hereditarias del Ojo/patología , Factores de Transcripción Forkhead/genética , Proteínas de Homeodominio/genéticaRESUMEN
Axenfeld-Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities. PITX2 and FOXC1 variants explain the majority of individuals with Axenfeld-Rieger syndrome (ARS) but leave ~30% unsolved. Here, we present pathogenic/likely pathogenic variants in nine families with ARA/ARS or similar phenotypes affecting five different genes/regions. USP9X and JAG1 explained three families each. USP9X was recently linked with syndromic cognitive impairment that includes hearing loss, dental defects, ventriculomegaly, Dandy-Walker malformation, skeletal anomalies (hip dysplasia), and other features showing a significant overlap with FOXC1-ARS. Anterior segment anomalies are not currently associated with USP9X, yet our cases demonstrate ARA, congenital glaucoma, corneal neovascularization, and cataracts. The identification of JAG1 variants, linked with Alagille syndrome, in three separate families with a clinical diagnosis of ARA/ARS highlights the overlapping features and high variability of these two phenotypes. Finally, intragenic variants in CDK13, BCOR, and an X chromosome deletion encompassing HCCS and AMELX (linked with ocular and dental anomalies, correspondingly) were identified in three additional cases with ARS. Accurate diagnosis has important implications for clinical management. We suggest that broad testing such as exome sequencing be applied as a second-tier test for individuals with ARS with normal results for PITX2/FOXC1 sequencing and copy number analysis, with attention to the described genes/regions.
Asunto(s)
Anomalías del Ojo , Factores de Transcripción , Humanos , Factores de Transcripción/genética , Proteínas de Homeodominio/genética , Segmento Anterior del Ojo/anomalías , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Anomalías del Ojo/patología , Ubiquitina TiolesterasaAsunto(s)
Anomalías del Ojo , Enfermedades Hereditarias del Ojo , Humanos , Segmento Anterior del Ojo/diagnóstico por imagen , Segmento Anterior del Ojo/anomalías , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico , Enfermedades Hereditarias del Ojo/complicaciones , Enfermedades Hereditarias del Ojo/diagnóstico , PupilaRESUMEN
PURPOSE: The aim of this study was to report a case of Peters plus-like syndrome, which revealed to have an 8q21.11 microdeletion by copy number variation analysis using exome data. METHODS: A 6-month-old Japanese boy presented with bilateral corneal opacity since birth. The right eye maintained central corneal transparency with slightly inferior nasal and superior peripheral corneal opacities. The entire cornea was opacified in the left eye, particularly in the superior quadrants with vascularization, suggesting Peters anomaly. Identification of intraocular structures in the left eye was difficult; however, hypoplasia of the circumferential anterior iris stroma appeared bilaterally present, and no abnormalities were present in the posterior segment on funduscopic examination of the right eye and ultrasonography in the left eye. He had several facial malformations in addition to corneal opacity, but no other external abnormalities. General examination, including biochemical tests of blood and urine, physiological and imaging tests including abdominal echo, auditory brain stem response, brain computed tomography, and magnetic resonance imaging, showed no abnormalities. However, the patient showed intellectual disability and delayed motor development. RESULTS: Although his karyotype was normal, copy number variation analysis using exome data and subsequent quantitative polymerase chain reaction identified a de novo 4.6-Mb deletion at 8q21.11q21.13; thus, the patient was diagnosed with 8q21.11 microdeletion syndrome. CONCLUSIONS: We identified a de novo 4.6-Mb deletion at 8q21.11q21.13 in a patient with ophthalmic anterior segment dysgenesis and systemic complications, clinically diagnosed as Peters plus-like syndrome. Clinically, the 8q21.11 microdeletion syndrome shows a phenotype similar to that of Peters plus syndrome, and a genetic diagnosis is required.
Asunto(s)
Opacidad de la Córnea , Anomalías del Ojo , Masculino , Humanos , Variaciones en el Número de Copia de ADN , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Opacidad de la Córnea/diagnóstico , Opacidad de la Córnea/genética , Córnea/anomalías , Segmento Anterior del Ojo/diagnóstico por imagen , Segmento Anterior del Ojo/anomalías , SíndromeAsunto(s)
Anomalías del Ojo , Enfermedades Hereditarias del Ojo , Enfermedades del Iris , Humanos , Segmento Anterior del Ojo/diagnóstico por imagen , Segmento Anterior del Ojo/anomalías , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico , Enfermedades Hereditarias del Ojo/complicaciones , Enfermedades Hereditarias del Ojo/diagnósticoRESUMEN
BACKGROUND: Peters' anomaly (PA) is the most commonly encountered congenital corneal opacity (CCO) and displays a wide phenotypical range. The relatively recent adoption of high-quality anterior segment imaging in the form of high-frequency ultrasound biomicroscopy and anterior segment optical coherence tomography has aided in the accurate diagnosis of CCOs, facilitated distinction of PA from "pseudo-Peters' anomaly," and aided in prognostication and surgical risk stratification in PA. While the definitive management of PA, especially the more severe forms, is penetrating keratoplasty (PK), long-term success rates have overall been disappointing. This spurred the development of more non-invasive procedures, such as optical iridectomy and the more recently described selective endothelial removal, which represent viable alternatives to PK, at least in the less severe phenotypes of PA. METHODS: Literature searches for the components of this review were performed using PubMed, in September 2021. The following keywords and their iterations were employed for the searches: "Peters' anomaly," "anterior segment dysgenesis," "kerato-irido-lenticular dysgenesis," "congenital corneal opacities." These were entered into the PubMed search engine, revealing 2852 related articles. The inclusion criteria included publications in the English language, specific to Peters' anomaly. Fifty-five studies that were published as systematic reviews or as nonrandomized comparative studies (cohort or case series) on the topic of Peters' anomaly were finally selected for this review. RESULTS: This review provides a summary of Peters' anomaly in the context of advances in diagnosis, classification, and genotype-phenotype correlation of congenital corneal opacities, with a focus on penetrating keratoplasty, its outcomes, and non-invasive surgical options. While conservative therapies such as spontaneous clearing, mydriatic eye drops, and optical iridectomy may have variable success in milder variants of PA, penetrating keratoplasty in these eyes is fraught with several challenges and typically results in poor long-term functional outcomes. The management strategy depends on several variables such as phenotypical severity of PA, laterality, age at presentation, and capacity to adhere to the follow-up schedule. Notwithstanding the choice of treatment, it is essential that early and aggressive amblyopia therapy, a thorough systemic examination, and appropriate referral are undertaken for all patients of PA. CONCLUSION: Peters' anomaly has seen recent advances in diagnosis, but treatment options remain limited. Focus directed towards less-invasive alternatives to keratoplasty may yield better functional outcomes.
Asunto(s)
Opacidad de la Córnea , Anomalías del Ojo , Humanos , Queratoplastia Penetrante , Opacidad de la Córnea/diagnóstico , Opacidad de la Córnea/cirugía , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/cirugía , Segmento Anterior del Ojo/diagnóstico por imagen , Segmento Anterior del Ojo/anomalías , Estudios RetrospectivosRESUMEN
Axenfeld-Rieger syndrome is a rare multi-system disorder associated with cardiac anomalies. All patients with a diagnosis of Axenfeld-Rieger syndrome were identified from our electronic medical record. Chart review was performed to document the presence and types of CHD. Out of 58 patients, 14 (24.1%) had CHD and a wide variety of cardiac lesions were identified.
Asunto(s)
Anomalías del Ojo , Enfermedades Hereditarias del Ojo , Cardiopatías Congénitas , Humanos , Segmento Anterior del Ojo/diagnóstico por imagen , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/patología , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/complicaciones , Anomalías del Ojo/patología , Enfermedades Hereditarias del Ojo/diagnóstico , Enfermedades Hereditarias del Ojo/complicaciones , Cardiopatías Congénitas/complicacionesAsunto(s)
Anomalías del Ojo , Enfermedades Hereditarias del Ojo , Enfermedades del Iris , Humanos , Anomalías del Ojo/diagnóstico , Segmento Anterior del Ojo/diagnóstico por imagen , Segmento Anterior del Ojo/anomalías , Enfermedades Hereditarias del Ojo/diagnóstico , Enfermedades del Iris/diagnóstico , Enfermedades del Iris/etiologíaRESUMEN
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition. METHODS: Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses. RESULTS: 128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for FOXC1-related ARS. Systemic anomalies were seen in all individuals with PITX2-related ARS and the majority of those with FOXC1-related ARS. PITX2-related ARS demonstrated typical umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. FOXC1-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia/early delay and feeding disorders with structural oesophageal anomalies in some. Brain imaging revealed highly penetrant white matter hyperintensities, colpocephaly/ventriculomegaly and frequent arachnoid cysts. The expanded phenotype of FOXC1-related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS. CONCLUSION: Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.
Asunto(s)
Anomalías del Ojo , Proteínas de Homeodominio , Humanos , Proteínas de Homeodominio/genética , Factores de Transcripción/genética , Segmento Anterior del Ojo/anomalías , Anomalías del Ojo/genética , Anomalías del Ojo/diagnóstico , Factores de Transcripción Forkhead/genética , MutaciónRESUMEN
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a rare kind of anterior segment dysgenesis (ASD). The most common ocular features of ARS are posterior embryotoxon and iris hypoplasia, while some patients may manifest as corneal opacity and edema. However, the current understanding of how ARS affects the cornea is still incomplete. This study reports a novel histopathological finding of ARS, complicating corneal abnormalities, including congenital corneal opacity and irreversible endothelial decompensation. METHODS: This retrospective study included 6 eyes of 3 ARS patients, 5 of which underwent keratoplasty for irreversible endothelial decompensation from May 2016 to January 2019. No eye had a history of surgery. We reviewed the data of epidemiology, clinical manifestations and histopathologic examinations. RESULTS: Five eyes developed irreversible endothelial decompensation, among which 4 were born with corneal opacity. One eye exhibited transparent cornea but showed a continuous loss of endothelial cells in the absence of surgery and elevated intraocular pressure thereafter. Anterior segment optical coherence tomography photographs showed that anterior synechia existed in the area with corneal opacities, where we found the interlayer splitting of the Descemet membrane inserted by hypoplastic iris and a basement membrane-like structure under a light microscope. CONCLUSION: Anterior synechia might be associated with corneal abnormalities in ARS patients. The novel histopathologic finding revealed the internal relation between anterior segment dysgenesis and would help explore the inner mechanism of corneal abnormalities in ARS.
Asunto(s)
Enfermedades de la Córnea , Opacidad de la Córnea , Anomalías del Ojo , Enfermedades del Iris , Humanos , Células Endoteliales/patología , Estudios Retrospectivos , Segmento Anterior del Ojo/anomalías , Anomalías del Ojo/patología , Enfermedades de la Córnea/patología , Opacidad de la Córnea/complicaciones , Enfermedades del Iris/patologíaRESUMEN
PURPOSE: This study describes the surgical outcomes of selective endothelialectomy in Peters anomaly (SEPA), a relatively new technique to manage Peters anomaly (PA). METHODS: This study included 34 eyes of 28 children who had a visually significant posterior corneal defect due to PA and underwent SEPA between 2012 and 2019. A selective endothelialectomy from the posterior corneal defect was performed while preserving Descemet membrane. The primary outcome measure was the resolution of corneal opacification. The secondary outcome measures were functional vision, complications, and risk factors for failure. RESULTS: At a mean postoperative follow-up of 0.96 ± 0.20 years, 29 eyes (85.3%) maintained a successful outcome. Mean preoperative and postoperative best-corrected visual acuities were 2.55 ± 0.13 and 1.78 ± 0.13 ( P < 0.0001), respectively. Ambulatory functional visual improvement was seen in 97%, and 23% attained vision ranging between 20/190 and 20/50. Corneal opacification failed to clear in 5 eyes (15%). Risk factors associated with surgical failure were female sex ( P = 0.006), disease severity ( P < 0.0001), glaucoma ( P = 0.001), and additional interventions after SEPA ( P = 0.002). In multivariate analysis, only disease severity (ie, a type 2 PA) was a significant risk factor for the failure of SEPA. There were no sight-threatening complications. CONCLUSIONS: SEPA is a safe and effective technique in select cases of posterior corneal defect due to PA. SEPA could be a potential surgical alternative to pediatric keratoplasty or optical iridectomy in children with central corneal opacification smaller than 7 mm due to PA.
Asunto(s)
Opacidad de la Córnea , Queratoplastia Penetrante , Femenino , Niño , Humanos , Masculino , Queratoplastia Penetrante/métodos , Agudeza Visual , Estudios Retrospectivos , Estudios de Seguimiento , Opacidad de la Córnea/cirugía , Segmento Anterior del Ojo/anomalíasRESUMEN
Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). There are a few case reports of optic nerve abnormalities associated with 6p25 deletion syndrome, which is a multigenic region that contains the FOXC1 gene. We present 4 patients with ARS, including 1 with a FOXC1 nonsense mutation, who also have prominent congenital optic nerve abnormalities.
Asunto(s)
Anomalías del Ojo , Enfermedades Hereditarias del Ojo , Humanos , Factores de Transcripción Forkhead/genética , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Segmento Anterior del Ojo/anomalías , Enfermedades Hereditarias del Ojo/diagnóstico , Enfermedades Hereditarias del Ojo/genéticaRESUMEN
INTRODUCTION: PITX3 has been reported to be associated with congenital cataracts, anterior segment mesenchymal dysgenesis, Peters' anomaly, and microphthalmia. In this case, an infant with unilateral buphthalmos, corneal staphyloma and corneal fistula carrying a variant in PITX3 was reported. CASE DESCRIPTION: We describe a 4-month-old female infant who was referred to our Eye Clinic because of gradual enlargement of the eyeball in the right eye and whitish opacity in both eyes. Buphthalmos with long axial length (22.04 mm), macrocornea with diffuse corneal oedema and opacity (14.50 mm*14.50 mm) and high intraocular pressure (23.78 mmHg) were detected in the right eye. Microphthalmia with short axial length (16.23 mm), microcornea with diffuse corneal oedema and opacity (7.50 mm*6.50 mm) were detected in the left eye. A 360° trabeculotomy was performed for the right eye. However, corneal staphyloma and corneal fistula in the right eye were detected 6 months after the surgery. A variant in exon 4 of PITX3 (c.640_656dup (p. Gly220Profs*95)) was identified in the proband but was not detected in her healthy parents. CONCLUSION: A novel phenotype characterized by unilateral buphthalmos, corneal staphyloma and corneal fistula in an infant were reported to be associated with PITX3 in our study. Our study expands the scope of the clinical heterogeneity of PITX3 variants. It also improves our understanding and increases the attention given to patients with PITX3 variants.
Asunto(s)
Enfermedades de la Córnea , Edema Corneal , Opacidad de la Córnea , Anomalías del Ojo , Fístula , Hidroftalmía , Microftalmía , Segmento Anterior del Ojo/anomalías , Enfermedades de la Córnea/patología , Edema Corneal/patología , Opacidad de la Córnea/cirugía , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Anomalías del Ojo/patología , Femenino , Fístula/patología , Glaucoma/congénito , Humanos , Microftalmía/diagnóstico , Microftalmía/genéticaRESUMEN
Axenfeld-Rieger Syndrome (ARS) is a rare autosomal dominant genetic disease with considerable expressive variability, characterized by ocular and non-ocular manifestations, cardiovascular, mild craniofacial abnormalities and dental malformations. Current data report an incidence of Xenfeld-Rieger syndrome in the population of 1: 200,000.The case described is that of a 14-year-old female patient whose ARS is suspected and investigated following a dental specialist visit for orthodontic reasons, acquired the patient's family and clinical data following a medical approach multidisciplinary, we proceed to the orthodontic involved the use of the Rapid Palatal Expander (RPE) and a fixed orthodontic treatment.The aim of this study is to report the case of the orthopaedic and orthodontic treatment in a patient affected by ARS and with facial dysmorphism and teeth anomalies associated to ocular anomalies.