Magnetic Resonance Imaging Findings and Genetic Testing Results in Children With Congenital Corneal Opacities.

PURPOSE: This study investigates brain and globe abnormalities identified on magnetic resonance imaging (MRI) in children with congenital corneal opacities (CCO). DESIGN: Retrospective cohort study. METHODS: Clinical notes, radiology records, and genetic testing results were reviewed for patients diagnosed with corneal opacification within the first 6 months of life at a tertiary referral academic center between August 2008 and January 2018. Ocular findings, systemic anomalies, neuroimaging, and genetic testing results were summarized. RESULTS: A total of 135 patients presenting at age 1 day to 12 years (mean age, 1 year) were identified. Children with bilateral CCO were more likely to have systemic disease (P = 0.018). Of the entire cohort, 43 (31.8%) patients received MRI, of whom 27 (62.8%) had abnormal brain findings and 30 (69.7%) had abnormal orbital findings. The most common abnormal brain findings were ventriculomegaly (n = 16, 59.2%) and corpus callosum abnormalities (n = 10, 37.0%) followed by brainstem/pons anomalies (n = 5, 18.5%), and cerebellar anomalies (n = 2, 7.4%). Abnormal brain MRI findings were associated with the presence of neurologic (P = .003) and craniofacial (P = .034) disease. A total of 44 (32.1%) patients underwent genetic testing, of whom 29 (65.9%) had pathogenic results. CONCLUSIONS: More than 60% of the children with CCO who underwent MRI had abnormal brain and orbit findings that were correlated with significant neurologic disease. Furthermore, almost two-thirds of patients with CCO who underwent genetic testing had pathogenic results. These data demonstrate the value of systemic workup in children with CCO, and highlight the role of ophthalmologists in facilitating the diagnosis of systemic comorbidities associated with CCO.

Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series.

PURPOSE: The purpose of this study was to describe the deep phenotype of congenital corneal opacities (CCO) in patients with 22q11.2 deletion syndrome (22q11.2 DS) and to identify putative regions or genes that could explain the CCO. METHODS: A retrospective chart review was conducted to identify patients with 22q11.2 DS seen in the ophthalmology clinic of a tertiary referral children's hospital. Thirty patients were identified, with molecular confirmation. Twenty-six did not show structural anterior segment anomalies aside from posterior embryotoxon (n = 4), whereas 4 had bilateral CCO, of which 3 had preoperative images. We reviewed medical, operative, and pathology reports; anterior segment optical coherence tomography; high-frequency ultrasound; histopathologic slides; and genetic testing. To identify putative genes responsible for CCO, chromosomal breakpoints in patients with and without CCO were compared. RESULTS: In the 3 patients with preoperative imaging and CCO, a pattern of paracentral corneal opacification with central clearing accompanied by iridocorneal or keratolenticular adhesions was observed. Anterior segment optical coherence tomography and histopathologic images showed central stromal thinning with a residual structure consistent with Descemet membrane. One patient presented at birth with unilateral corneal perforation, suggestive of likely stromal thinning. A comparison of the breakpoints across all cases failed to reveal unique regions or genes in patients with CCO. CONCLUSIONS: 22q11.2 DS can rarely be associated with CCO. We describe a consistent pattern of central clearing related to posterior stromal thinning, with or without ICA/KLA. Possible candidate genes for corneal opacification in 22q11.2 DS remain elusive.

Peter's anomaly-A homeotic gene disorder.

Peter's anomaly is a rare form of congenital anterior segment dysgenesis of the eye. Varying degrees of central corneal opacity and lenticulo-corneal or irido-corneal synechiae are the key hallmarks. The association of Peter's anomaly along with short stature, rhizomelia, broad short hands or brachydactyly, with facial dysmorphism, cleft lip, cleft palate, genitourinary and cardiovascular anomalies is a distinct and is often termed Peter's plus syndrome. Early detection is imperative to prevent sensory deprivation amblyopia. Glaucoma can be present at initial diagnosis or at any stage later, but treatment can be difficult. For the dense leukoma, corneal graft may be needed but visual prognosis is poor. Research focussing on gene editing and regenerative medicine using native corneal endothelial cells is ongoing.

Pediatric Use of Recombinant Human Nerve Growth Factor 20 µg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.

PURPOSE: This study aimed to present the efficacy and safety of cenegermin eye drop (Oxervate; Dompè Farmaceutici, Milan, Italy) treatment in a pediatric patient affected by neurotrophic keratopathy (NK) with Goldenhar syndrome. METHODS: This case reports an infant presenting ulceration and a small central opacity in the cornea of the right and left eyes, respectively. The NK bilaterally worsened despite the use of therapeutic contact lenses and temporary partial tarsorrhaphy. Magnetic resonance imaging showed absence and hypoplasia of the right and left trigeminal nerves, respectively. Cenegermin eye drops were administered 1 drop/each eye, 6 times daily for 8 weeks to promote corneal healing. RESULTS: Complete healing was achieved in both eyes after treatment. During the 16-month follow-up period, no epithelial defect, recurrence, or complications were noticed, whereas corneal opacities progressively became clearer, although insignificant improvements in corneal sensitivity or in the reflex tearing were observed. CONCLUSIONS: Cenegermin was effective in treating NK in an infant with Goldenhar syndrome.

Causes of congenital corneal opacities and their management in a tertiary care center / Causas de opacidades corneanas congênitas e seu controle em um centro de cuidados terciários

ABSTRACT Purpose: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. Methods: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. Results: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. Conclusion: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

RESUMO Objetivo: Avaliar as causas e o controle das opa cidades corneanas congênitas diagnosticadas em um centro oftal mológico de atendimento terciário e comparar os dados com um estudo anterior realizado na mesma instituição. Métodos: Prontuários médicos informatizados de todos os pacientes com opacidade corneana congênita diagnosticada no Serviço de Córnea no Wills Eye Hospital (Filadélfia, PA) entre 1º de ja neiro de 2007 e 31 de dezembro de 2015 foram revisados retrospectivamente. Crianças com 12 anos ou menos na primeira consulta foram incluídas no estudo. A demografia dos pacientes, o diagnóstico ocular, a lateralidade, as anormalidades oculares associadas, outras cirurgias oculares realizadas antes ou após a primeira consulta e o tratamento foram extraídos dos prontuários médicos. Resultados: Um total de 77 olhos de 56 pacientes foi examinado. A idade média de apresentação foi de 32,8 ± 44,2 meses, com um tempo médio de acompanhamento de 26,7 ± 30,1 meses. O diagnóstico mais frequente foi anomalia de Peters (53,2%), seguido por dermóide límbico (13,0%), aniridia com glaucoma e microftalmia (6,5%), esclerocórnea e glaucoma congênito (5,2%), idiopático (3,9%), síndrome de Axenfeld-Rieger e síndrome de Hurler (2,6%) e microcórnea (1,3%). Ceratoplastia primária foi realizada em 26 olhos, com desfecho de córnea clara de 76,0% durante o acompanhamento. Conclusão: A anomalia de Peters é a causa mais comum de opacidade corneana congênita encontrada em nossa instituição. A ceratoplastia penetrante é a escolha mais frequente de cirurgia corneana para o tratamento de opacidades corneanas congênitas. Intervenções adicionais durante a ceratoplastia penetrante foram moderadamente correlacionadas positivamente com a falha do enxerto. Este estudo também mostra as taxas de algumas etiologias do que mudou ao longo faz últimas décadas em nosso serviço de córnea de atendimento terciário. Embora a anomalia de Peters continue a ser a causa mais comum das opacidades congênitas da córnea, sua taxa parece estar aumentando na última década. Opacidades congênitas da córnea devido a trauma no nascimento, que é uma das causas evitáveis, foram observadas em um estudo anterior em nossa clínica; no entanto, nenhum caso novo foi observado neste estudo.

Causes of congenital corneal opacities and their management in a tertiary care center.

PURPOSE: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. METHODS: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. RESULTS: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. CONCLUSION: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

Clinicopathologic Features and Treatment Characteristics of Congenital Corneal Opacity Infants and Children Aged 3 Years or Less: A Retrospective Single Institution Analysis.

OBJECTIVE: In this retrospective single institution study, we investigated the clinicopathologic features and treatment characteristics of 90 patients with congenital corneal opacities (CCO) (117 eyes) who were 3 years and younger and treated at our hospital. SUBJECT AND METHODS: We reviewed the clinical data of patients with CCO who presented for the first time for treatment at our hospital between January 1, 2017, and December 31, 2017. CCO were classified using the "STUMPED" (Sclerocornea, Tears in Descement's membrane, Metabolic, Peters, Endothelial dystrophy and Dermoid) method and confirmed by pathological examination. -Results: Seventy percent of the patients had unilateral CCO. Iridocorneal adhesions (61 eyes, 52.1%) and cataracts (22 eyes, 18.8%) were the 2 most common ocular abnormalities. Systemic abnormalities were present in 5 patients (5.6%), including growth retardation (4 patients) and congenital brain defects (1 patient). Eighty-five eyes (72.6%) underwent penetrating keratoplasty (PK), and lamellar keratoplasty (LK) was performed in 30 (25.6%) eyes. Forty-seven (95.9%) eyes with Peters anomaly and all 16 eyes with sclerocornea received PK, and all 24 eyes with dermoids were treated with LK. CONCLUSION: Our study demonstrates that CCO has varied manifestations in infants and young children in China. A thorough medical history, careful clinical examination, and the use of accessory examinations such as ultrasound biomicroscopy are critical for the accurate diagnosis and classification of CCO and to provide guidance on therapeutic choices.

Spontaneous regression of congenital corneal opacity.

PURPOSE: To determine the incidence of spontaneous regression of congenital corneal opacity (CCO) and identify clinical factors associated with the regression. METHODS: Medical records and anterior segment photographs were reviewed of 57 eyes in 35 patients with CCO that were not related to congenital glaucoma, tumors, infection, trauma, or metabolic disorders and were followed up without corneal transplantation for longer than one year at Seoul National University Hospital. Spontaneous regression of corneal opacity was defined as a decrease in corneal opacity significant enough for visual axis clearance. Data on demographics, systemic, and ocular characteristics were collected and compared between patients who had spontaneous regression of CCO and those who did not. RESULTS: Spontaneous regression of corneal opacity developed in 32 eyes (22 patients, 56.1%) out of 57 CCO eyes (35 patients) at the mean 8.2 ± 5.4 months of age (the median 6.7 months). Absence of combined ocular anomalies such as iris anomaly, lens opacity, and peripheral corneal vascularization was significantly associated with the regression of opacity. CONCLUSIONS: Corneal opacity can spontaneously regress in 56.1% of eyes with CCO during the first year of life. Careful follow-up with amblyopia management can be one of treatment options for CCO.

Primary Pediatric Keratoplasty: Etiology, Graft Survival, and Visual Outcome.

PURPOSE: Interventional study to evaluate the etiology, visual outcome and survival of corneal transplantation in children and to identify the risk factors associated with graft failure. DESIGN: Retrospective, interventional consecutive case series. METHODS: Medical records of every child 7 years of age or younger who underwent primary penetrating keratoplasty at Department of Ophthalmology, Federal University of São Paulo were reviewed. The parameters evaluated were indications for keratoplasty, graft survival, and postoperative visual acuity (VA) improvement. Children underwent ophthalmologic examination before and after corneal graft, including VA, assessed by the preferential looking test and visual evoked potential. The analysis of transplant survival was performed using the Kaplan-Meier method. RESULTS: Fifty-six penetrating transplants were performed in 51 eyes of 43 children. The patients were divided into 2 groups: congenital (72.5%) and acquired (17.5%) corneal opacity. The main indication was congenital glaucoma (29.4%). The overall Kaplan-Meier graft survival rates were 64.7% in the postoperative average follow-up period of 24 months. There was no significant difference in graft survival between the congenital and acquired groups (Mantel-Cox P = .1031). There was significant improvement in VA in both groups (P = .0022 for congenital and P < .0001 for acquired). Rejection and diagnosis of congenital glaucoma were risk factors for graft failure. CONCLUSIONS: Congenital glaucoma was the main indication for corneal transplantation and despite the difficulties, prolonged survival and improved VA can be achieved in pediatric transplant. Complications such as rejection and early glaucoma were significantly associated with graft failure.

Therapeutic efficacy of mesenchymal stem cells for the treatment of congenital and acquired corneal opacity.

Purpose: Maintenance of a transparent corneal stroma is imperative for proper vision. The corneal stroma is composed of primarily collagen fibrils, small leucine-rich proteoglycans (SLRPs), as well as sparsely distributed cells called keratocytes. The lattice arrangement and spacing of the collagen fibrils that allows for transparency may be disrupted due to genetic mutations and injuries. The purpose of this study is to examine the therapeutic efficacy of human umbilical cord mesenchymal stem/stromal cells (UMSCs) in treating congenital and acquired corneal opacity associated with the loss of collagen V. Methods: Experimental mice, i.e., wild-type, Col5a1f/f and Kera-Cre/Col5a1f/f (Col5a1∆st/∆st , collagen V null in the corneal stroma) mice in a C57BL/6J genetic background, were subjected to a lamellar keratectomy, and treated with or without UMSC (104 cells/cornea) transplantation via an intrastromal injection or a fibrin plug. In vivo Heidelberg retinal tomograph (HRT II) confocal microscopy, second harmonic generated (SHG) confocal microscopy, histology, and immunofluorescence microscopy were used to assess the corneal transparency of the regenerated corneas. Results: Col5a1∆st/∆st mice display a cloudy cornea phenotype that is ameliorated following intrastromal transplantation of UMSCs. Loss of collagen V in Col5a1∆st/∆st corneas augments the formation of cornea scarring following the keratectomy. UMSC transplantation with a fibrin plug improves the healing of injured corneas and regeneration of transparent corneas, as determined with in vivo HRT II confocal microscopy. Second harmonic confocal microscopy revealed the improved collagen fibril lamellar architecture in the UMSC-transplanted cornea in comparison to the control keratectomized corneas. Conclusions: UMSC transplantation was successful in recovering some corneal transparency in injured corneas of wild-type, Col5a1f/f and Col5a1∆st/∆st mice. The production of collagen V by transplanted UMSCs may account for the regeneration of corneal transparency, as exemplified by better collagen fiber organization, as revealed with SHG signals.

Congenital Corneal Opacities Associated With Trisomy 8 Mosaicism Syndrome.

PURPOSE: To describe the clinical, anterior segment optical coherence tomography (OCT) and histopathological features of 2 infants with congenital corneal opacities (CCOs) and undiagnosed trisomy 8 mosaicism syndrome (T8mS). METHODS: This is a retrospective case report documenting ocular and systemic findings, imaging, pathology and management of 2 patients with T8mS. RESULTS: An 11-month-old white male infant and a 4-week-old Asian female were initially seen for unilateral and bilateral CCOs, respectively. Corneal examination revealed para-axial anterior stromal opacities with blood vessels. Superficial irregular opacities were seen on OCT, and specular microscopy revealed normal endothelial cell morphology. One eye required superficial keratectomy to clear the visual axis and developed steroid-induced glaucoma in the early postoperative period, successfully treated with goniotomy. Both patients had hyperopia, anisometropia, and amblyopia, which was managed with glasses and patching. Cytogenetic testing (through microarray and fluorescence in situ hybridization) later diagnosed T8mS in both cases. CONCLUSIONS: T8mS should be considered in the differential diagnosis for superficial CCOs with blood vessels. Anterior segment OCT can guide management and cytogenetics performed to confirm diagnosis. Systemic associations and, in particular, risk of acute myeloid leukemia and myelodysplastic syndromes warrant prompt diagnosis of this condition.

Visual Outcomes and Prognostic Factors of Successful Penetrating Keratoplasty in 0- to 7-Year-Old Children With Congenital Corneal Opacities.

PURPOSE: To determine the visual acuity and prognostic factors after successful penetrating keratoplasty (PK) in 0 to 7-year-old children with congenital corneal opacities. METHODS: Sixty eyes (50 patients) with clear grafts after PK for congenital corneal opacity were enrolled and followed for 6 to 82 months. Visual acuity was measured using Teller acuity cards or Snellen charts, and cycloplegic refraction and flash visual-evoked potentials were measured. Mean age at primary keratoplasty was 2.5 ± 1.7 years. The mean follow-up duration was 18.9 ± 19.3 months. RESULTS: Ambulatory vision (≥20/960) was achieved in 43 of 60 eyes (71.7%) at last follow-up, and 14 eyes (23.3%) had visual acuities >20/260. Compared with unilateral opacity eyes (58.8%), a significantly higher proportion of bilateral opacity eyes (88.5%) achieved ambulatory vision (P = 0.012). Of all the surgical indications, unilateral sclerocornea was associated with the worst visual outcome-only 12.5% obtained ambulatory vision. Additional intraocular surgery was also associated with a reduced ambulatory visual acuity outcome. There were no significant differences in visual acuity among the different follow-up subgroups (<12 months, 12-36 months, and >36 months after operation; P = 0.928). Patients with bilateral opacity had a higher proportion of abnormal amplitude flash visual-evoked potentials than did patients with unilateral opacity (P = 0.033). Ten of the 14 eyes that achieved 20/260 vision had corneal astigmatism ≤3 diopters. CONCLUSIONS: Most of the clear grafts after PK in children with congenital corneal opacities achieved ambulatory vision. The visual outcome was better in binocular opacity cases than in monocular ones.

Newborn Glaucoma: Do not Forget Infections.

Intrauterine infections can affect various structures of the developing fetal eye. Rubella infection results in congenital cataracts, keratopathy, retinopathy and less commonly, glaucoma. Ophthalmic manifestations of intrauterine cytomegalovirus (CMV) infection have been reported to be chorioretinitis, optic nerve colobomas, and corneal opacities, but have not been implicated in congenital cataract or congenital glaucoma. Concurrent infection with both rubella and CMV virus has not been reported. We report concurrent rubella and CMV infection in a baby born with corneal opacification, severe congenital glaucoma, and congenital cataract. It is important to recognize these babies early and investigate for intrauterine infections rather than assume they are all primary congenital glaucoma. Involvement of the cornea, glaucoma, and cataract make management of these babies a major challenge requiring a multidisciplinary team approach.

Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy.

PURPOSE: To clinically characterize and compare 2 types of corneal abnormalities in patients with congenital aniridia: (1) congenital central corneal opacity from birth (CCO) and (2) aniridia-associated keratopathy (AAK) that develops progressively with age. DESIGN: Retrospective cohort study. METHODS: Medical records of Korean patients who were diagnosed with congenital aniridia at Seoul National University Hospital between 1991 and 2016 were reviewed. Prevalence of corneal abnormalities (CCO and AAK), other ocular and systemic comorbidities, severity of AAK depending on the age, logarithm of the minimum angle of resolution (logMAR) visual acuities, and types and results of surgical intervention were collected. RESULTS: Among a total of 275 eyes (138 patients), 13% (35 eyes, 20 patients) had CCO and 25% (68 eyes, 35 patients) developed AAK. The AAK became prominent at a mean of 21.6 years of age, and the severity progressed with age. Glaucoma was more prevalent in aniridia patients with CCO (74%), compared to those with AAK (37%) (P = .0003). Cataract frequently occurred in patients with AAK (78%), who required cataract surgeries at mean 26.6 years. The logMAR visual acuity was worse in patients with CCO (2.04 ± 0.71) than in those with AAK (1.29 ± 0.62) (P < .0001). Penetrating keratoplasty was performed in 6 eyes with CCO, and the graft survival was 33.3% during mean 45 months of follow-up (range 14-79 months). CONCLUSIONS: In total, 13% of aniridia patients had CCO at birth, while 25% progressively developed clinically significant AAK with age. The visual outcome was worse in patients with CCO than in those with AAK.

Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf.

A Holstein calf was born with a large protruding right eye and a central corneal opacity. Enucleation was the first choice of treatment. The calf had a good prognosis and was raised for milking purposes. Macroscopically, the enucleated eye was characterized by the protruded cornea, adherence of the iris to the central posterior cornea and aphakia. Microscopically, central corneal thickening and a defect in the endothelium and Descemet's membrane were observed. These data suggest that this represents a case of unilateral anterior segment dysgenesis consistent with congenital corneal staphyloma with Peters' anomaly and aphakia. Neither a mutation of the WFDC1 gene in multiple ocular defects nor any other identifiable cause for ocular anomalies was detected.

The Palisades of Vogt in Congenital Corneal Opacification (An American Ophthalmological Society Thesis).

PURPOSE: The purposes of this study are first, to determine if the palisades of Vogt (POV) are present or absent in cases of congenital corneal opacification (CCO) by using spectral domain ocular coherence tomography (SD-OCT), and second, in those cases already undergoing penetrating keratoplasty (PKP), to see whether the absence or presence of POV corresponds to re-epithelialization following transplant. METHODS: This was a retrospective case review of 20 eyes (10 normal, 10 with CCO) evaluated with SD-OCT. The operator was masked to the clinician's assessment of the ocular surface. In those cases where the decision to perform PKP had already been made, the correlation between POV presence or absence and posttransplant graft epithelialization was determined. RESULTS: All cases were imaged without adverse event. Nine eyes showed some evidence of POV and corresponding vasculature. Eight of 10 affected eyes underwent PKP, and subsequently 7 eyes epithelialized and 2 showed some peripheral neovascularization. The one eye that showed no signs of POV was the one that failed to epithelialize. All control subjects had consistent and regular POV. CONCLUSIONS: Congenital corneal opacification is rare, and this study shows that at least some POV are present in the majority of cases of CCO. However, the palisades may not be entirely normal compared to age-matched controls. When there was absence of POV in a case of CCO, there was immediate and complete failure of epithelialization.

A novel characterization of posterior keratoconus using anterior segment optical coherence tomography in an infant: a case report.

BACKGROUND: Posterior keratoconus is a rare cause of a corneal opacity in an infant. It is characterized by thinning of the posterior cornea without ectasia of the anterior cornea. Imaging of this condition with anterior segment optical coherence tomography (AS-OCT) has not been reported in the literature. CASE PRESENTATION: A six week old African-American male presented with a congenital corneal opacity of the right eye. He underwent an examination under anesthesia in which photography and AS-OCT were performed. AS-OCT confirmed the diagnosis of posterior keratoconus. The patient subsequently underwent an optical iridectomy for visual development. CONCLUSION: AS-OCT is a useful tool in cases when a child presents with a corneal opacity of unknown or unclear etiology. In our patient, AS-OCT showed the classic description of central corneal thinning seen in this condition. Additionally, it revealed an associated detached Descemet membrane, a feature which has not been previously described in posterior keratoconus.

[Ultrasound biomicroscopy in infants with congenital corneal opacity and its correlations with clinical diagnosis and intraocular pressure].

PURPOSE: Ultrasound biomicroscopy (UBM) can be used to investigate the appearance of the anterior chamber in infants with congenital corneal opacity. This study investigated the association between the UBM-obtained clinical imaging of anterior chamber morphology and the clinical diagnosis in infants with congenital corneal opacity. SUBJECTS AND METHODS: This study involved 19 eyes of 10 consecutive infants with congenital corneal opacity, 13 eyes with Peters anomaly (PA, 7 cases) and 6 eye with sclerocornea (SC, 3 cases), recruited at the Kyoto Prefectural University of Medicine, Kyoto, Japan between September 2001 and January 2009. In each subject eye, UBM findings were compared with the clinical diagnosis based on slit-lamp findings and intraocular pressure (IOP). RESULTS: UBM findings revealed partial angle closure in 10 PA eyes and in 5 SC eyes, absence of Descemet's membrane in 13 eyes and 6 eyes, and funicular fiber from the iris in 12 eyes and 6 eyes. All 6 eyes with SC showed normal IOP, while 9 eyes with PA were diagnosed as glaucoma. CONCLUSION: Similarities in UBM appearance were observed between PA and SC. PA had a higher incidence of glaucoma; however, there was no relation between IOP and the UBM images.

Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States.

PURPOSE: The aim of this study was to determine the incidence of Peters anomaly (PA) and congenital corneal opacities (CCO) interfering with vision in the United States. METHODS: We collected data from the Eye Bank Association of America (EBAA), the Eye-Bank for Sight Restoration (Eye-Bank) in New York City, the New York State Department of Health (NYSDH), and the Pediatric Keratoplasty Association (PKA). RESULTS: The EBAA data for 1996 and 1997 indicate that approximately 44,000 corneal transplants are performed annually. Of them, at least 128 are performed in infants, for various etiologies. A survey by the members of the PKA on 1995 showed that 65% of all grafts in infants are performed for PA. The NYSDH data from 1992 to 1997 indicate that the incidence of CCO interfering with vision was 2.2 infants per 100,000. Of those, PA accounted for 1.5 per 100,000. Eye-Bank data from 1988 to 1997 indicate that 12 children (1.1 per 100,000) received 23 transplants on 19 eyes for PA. CONCLUSIONS: Combining the data from all 4 sources indicates that approximately 1 infant corneal transplant is performed for every 24,000 live births and most of all CCO interfering with vision is due to PA. Applying the NYSDH and Eye-Bank data to a national birth rate of 4 million, we would expect approximately 88 children born annually in the United States with CCO interfering with vision, with at least 44 to 60 being due to PA. Many of these children may require more than 1 transplant.