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The Canadian Veterinary Journal = La... Jan 2012
Topics: Animals; Dog Diseases; Dogs; Female; Glaucoma; Hydrophthalmos; Nerve Degeneration; Optic Nerve; Prognosis; Retinal Neurons
PubMed: 22753974
DOI: No ID Found -
JAMA Ophthalmology Jul 2018Multi-institutional collaborative studies that include large patient populations for the management of retinoblastoma with histopathological risk factors could provide...
IMPORTANCE
Multi-institutional collaborative studies that include large patient populations for the management of retinoblastoma with histopathological risk factors could provide important information for patient management.
OBJECTIVE
To evaluate the implementation of a strategy for the management of nonmetastatic unilateral retinoblastoma in children based on standardized diagnostic and treatment criteria.
DESIGN, SETTING, AND PARTICIPANTS
This single-arm prospective study applied a strategy based on a single-center experience. The setting was a multicenter study in Latin America (Grupo de America Latina de Oncologia Pediatrica [GALOP]). Participants were children with nonmetastatic unilateral retinoblastoma (staged with the International Retinoblastoma Staging System). The study opened on July 1, 2008, and closed on December 31, 2014. Follow-up was updated until June 30, 2017.
INTERVENTIONS
Stage 0 patients (without enucleation) were given conservative therapy without a protocol. Stage I patients (with enucleation and no residual tumor) were divided into a high-risk group (retrolaminar invasion and/or scleral invasion) and a low-risk group (all remaining patients). High-risk children received adjuvant chemotherapy with 4 alternating cycles of regimen 1 (cyclophosphamide [65 mg/kg/d] [plus sodium-2-mercaptoethane sulfonate], idarubicin hydrochloride [10 mg/m2/d], and vincristine sulfate [0.05 mg/kg/d]) and 4 cycles of regimen 2 (carboplatin [500 mg/m2/d, days 1 and 2] and etoposide [100 mg/m2/d, days 1-3]). Low-risk children did not receive adjuvant therapy. Children with buphthalmia received neoadjuvant and adjuvant chemotherapy for a total of 8 cycles.
MAIN OUTCOMES AND MEASURES
Probability of event-free survival (extraocular relapse and death from any cause were considered events).
RESULTS
Among 187 children registered in the study, 175 were evaluable (92 [52.5%] female; median age, 22 months; age range, 3-100 months). Forty-two were stage 0 children, 84 were stage I low-risk children, and 42 were stage I high-risk children; there were 7 children in the buphthalmia group. With a median follow-up of 46 months, the 3-year probability of event-free survival was 0.97 (95% CI, 0.94-0.99), and the probability of overall survival was 0.98 (95% CI, 0.94-1.00). Stage 0 patients had no events, stage I low-risk patients had 1 event (orbital relapse treated with second-line therapy), stage I high-risk patients had 2 events (1 central nervous system relapse and 1 death from sepsis), and the buphthalmia group had 1 event (orbital relapse, followed by central nervous relapse and death).
CONCLUSIONS AND RELEVANCE
Adjuvant therapy may be effective for high-risk unilateral retinoblastoma but is toxic, and neoadjuvant chemotherapy for buphthalmus appears feasible.
Topics: Antineoplastic Combined Chemotherapy Protocols; Carboplatin; Child; Child, Preschool; Cyclophosphamide; Disease-Free Survival; Etoposide; Eye Enucleation; Female; Humans; Hydrophthalmos; Idarubicin; Infant; Male; Mesna; Neoplasm Metastasis; Neoplasm Staging; Prospective Studies; Retinal Neoplasms; Retinoblastoma; Survival Rate; Vincristine
PubMed: 29799944
DOI: 10.1001/jamaophthalmol.2018.1501 -
Arquivos Brasileiros de Oftalmologia 2022To assess the anterior and posterior segments of full-term neonates over a 1.5-year period.
PURPOSE
To assess the anterior and posterior segments of full-term neonates over a 1.5-year period.
METHODS
The findings of full-term neonates who underwent ophthalmological examinations between June 2019 and December 2020 were analyzed, and the results were retrospectively recorded.
RESULTS
The study comprised 2972 neonates with a mean birth week of 38.7 ± 1.2 weeks and a mean birth weight of 3235 ± 464 g. The neonates were examined on an average of 49.3 ± 18.9 postnatal days. Of the examined neonates, 185 (6.2%) showed abnormal ophthalmological findings, the most prevalent of which were retinal hemorrhage in 2.3% (n=68) and white changes in the peripheral retina in 1.9% (n=55) of the neonates. Cases of optic disc pathologies (n=20), choroidal nevus (n=10), iris-choroidal coloboma (n=5), subconjunctival hemorrhage (n=6), non-specific retinal pigmentary change (n=4), congenital cataract (n=3), posterior synechia (n=3), iris nevus (n=3), corneal opacity (n=1), choroidal coloboma (n=1), iris coloboma (n=1), buphthalmos (n=1), anophthalmos (n=1), microphthalmia (n=1), lid hemangioma (n=1), and vitreous hemorrhage (n=1) collectively accounted for approximately 2% of all neonates. Pathologies that could potentially impair vision, which were detected by ophthalmological examination, accounted for 1.2% of all neonates (n=37).
CONCLUSION
The most prevalent finding of the ophthalmological examinations of neonates in the present study was retinal hemorrhage. Ophthalmological examinations of neonates can help in identifying diseases that may affect their vision and are curable or may lead to amblyopia in the long term.
Topics: Humans; Infant, Newborn; Coloboma; Retinal Hemorrhage; Retrospective Studies; Eye Abnormalities; Nevus
PubMed: 35857993
DOI: 10.5935/0004-2749.2021-0536 -
BMC Ophthalmology Sep 2022PITX3 has been reported to be associated with congenital cataracts, anterior segment mesenchymal dysgenesis, Peters' anomaly, and microphthalmia. In this case, an infant...
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.
Topics: Anterior Eye Segment; Corneal Diseases; Corneal Edema; Corneal Opacity; Eye Abnormalities; Female; Fistula; Glaucoma; Humans; Hydrophthalmos; Microphthalmos
PubMed: 36153513
DOI: 10.1186/s12886-022-02573-x -
Arquivos Brasileiros de Oftalmologia 2022To report the distribution of referral reasons for children from a pediatric glaucoma outpatient clinic in a tertiary eye care service.
PURPOSE
To report the distribution of referral reasons for children from a pediatric glaucoma outpatient clinic in a tertiary eye care service.
METHODS
The medical records of patients aged <18 years who were referred to a pediatric glaucoma center in the city of São Paulo, Brazil, between 2012 and 2018 were retrospectively reviewed. The data collected included the referral reasons, age, hospital of origin, and who detected the ocular alteration. For defining the diagnosis, the Childhood Glaucoma Research Network classification was used.
RESULTS
Five hundred sixty-three eyes of 328 patients were included in the study. Glaucoma diagnosis was confirmed in 162 children (49%). In 83 patients (25%), the glaucoma diagnosis was ruled out, and 83 (25%) continued outpatient follow-up for suspected glaucoma. The main referral reasons were a cup-to-disc ratio >0.5 or an asymmetry ≥0.2 (24%), intraocular pressure >21 mmHg (21%), and corneal opacity (15%). In the neonatal period, the referral reasons were corneal opacity, buphthalmos, tearing, and photophobia. After the neonatal period, besides these external changes, other signs were also reasons for referral, such as cup-to-disc ratio >0.5 or asymmetry ≥0.2, intraocular pressure >21 mmHg, and myopic shift. The referrals were made by health professionals in 69% and parental concern in 30% of the cases. In 97% of the primary congenital glaucoma cases, the parents were the first to identify the change and to seek for health care.
CONCLUSIONS
The referral reasons of the children to a tertiary glaucoma clinic were differed between the age groups and diagnoses. We suggest that awareness with these findings is important to avoid and postpone diagnosis, identify their impacts on prognosis, and avoid spending important resources for the management of diseases with inaccurate referrals.
Topics: Brazil; Child; Corneal Opacity; Glaucoma; Humans; Hydrophthalmos; Infant, Newborn; Intraocular Pressure; Referral and Consultation; Retrospective Studies
PubMed: 34852063
DOI: 10.5935/0004-2749.20220067 -
Journal of Pediatric Urology Feb 2021Hypospadias, one of the most common male genital birth defects, occurs in 1 out of every 200 male births in the United States and is increasing in prevalence globally.
INTRODUCTION
Hypospadias, one of the most common male genital birth defects, occurs in 1 out of every 200 male births in the United States and is increasing in prevalence globally.
OBJECTIVE
This study aimed to characterize the combinations of birth defects that co-occur with hypospadias more often than expected by chance, while accounting for the complex clustering patterns of congenital defects.
STUDY DESIGN
We analyzed cases with hypospadias and at least one additional co-occurring defect from the Texas Birth Defect Registry born between 1999 and 2014. For each combination, we calculated adjusted observed-to-expected (O/E) ratios, using Co-Occurring Defect Analysis (CODA).
RESULTS
Among 16,442 cases with hypospadias and without known syndromes, 2,084 (12.7%) had at least one additional defect. Many of the birth defect combinations within the highest adjusted O/E ratios included cardiac, musculoskeletal, and additional urogenital defects. For example, a top combination with an adjusted O/E of 139.0 included renal agenesis and dysgenesis, reduction defects of the upper limb, and other anomalies of upper limb (including shoulder girdle). High adjusted O/E ratios were also observed in combinations that included defects outside of the urogenital developmental field. For instance, the combination with the highest O/E ratio included buphthalmos, and congenital cataract and lens anomalies (adjusted O/E ratio: 192.9). Similar results were obtained when we restricted our analyses to cases with second- or third-degree hypospadias.
DISCUSSION
Many combinations in the top results were expected (e.g., multiple urogenital defects); however, some combinations with seemingly unrelated patterns of defects may suggest the presence of some etiologic mechanisms yet to be identified.
CONCLUSION
In summary, this study described patterns of co-occurring defect combinations with hypospadias that can inform further study and may provide insights for screening and diagnostic practices.
Topics: Congenital Abnormalities; Genitalia, Male; Humans; Hypospadias; Infant; Male; Prevalence; Registries; Texas; United States
PubMed: 33281045
DOI: 10.1016/j.jpurol.2020.11.015 -
Journal of AAPOS : the Official... Jun 2022Anterior megalophthalmos is a form of anterior segment dysgenesis characterized by megalocornea (>12.5 mm) coupled with an enlarged lens-iris diaphragm and ciliary body...
Anterior megalophthalmos is a form of anterior segment dysgenesis characterized by megalocornea (>12.5 mm) coupled with an enlarged lens-iris diaphragm and ciliary body ring. Importantly, intraocular pressure (IOP) is normal, and in contrast to buphthalmos, the ratio of anterior segment to vitreous cavity measurements is increased. Anterior megalophthalmos may be an isolated ocular finding, or it may be associated with syndromes such as albinism, Down syndrome, Frank-Ter-Haar, Marfan, Neuhauser, mucolipidosis type 2, and osteogenesis imperfecta. We report anterior megalophthalmos in 2 sisters with genetically confirmed (SIN3A, c.1657C>T, p.R553∗) Witteveen-Kolk syndrome (OMIM #613406).
Topics: Eye Abnormalities; Eye Diseases, Hereditary; Female; Genetic Diseases, X-Linked; Humans; Hydrophthalmos; Iris
PubMed: 35144002
DOI: 10.1016/j.jaapos.2022.01.003 -
American Journal of Ophthalmology Case... Mar 2022To report a case of gonioscopy-assisted transluminal trabeculotomy (GATT) in a patient with primary congenital glaucoma.
PURPOSE
To report a case of gonioscopy-assisted transluminal trabeculotomy (GATT) in a patient with primary congenital glaucoma.
OBSERVATIONS
A three-year-old boy who presented with buphthalmos and elevated intraocular pressure. Despite the presence of iris and iris processes extending to Schwalbe's line, GATT was performed successfully.
CONCLUSIONS
GATT may be successful with primary congenital glaucoma even when angle structures are not initially visible.
PubMed: 35146211
DOI: 10.1016/j.ajoc.2022.101366 -
Journal of Ophthalmic & Vision Research 2022To present a case of intraocular schwannoma arising from the ciliary body with description of histological and immunophenotypic characteristics.
PURPOSE
To present a case of intraocular schwannoma arising from the ciliary body with description of histological and immunophenotypic characteristics.
CASE REPORT
A 32-year-old woman who was followed for glaucoma of the left eye and chronic renal failure at the stage of hemodialysis presented with buphthalmos and two weeks of blurry vision of the left eye. A magnetic resonance imaging exam was performed suspecting melanoma. Enucleation was rapidly performed. The histological examination after HE (Hematoxylin and Eiosin) and HEA50 (Hematoxylin and polychromatic solution EA 50) staining showed proliferation of mesenchymal monomorphic fusiform cells with eosinophilic cytoplasm and small oval nuclei which showed a tendency toward palisading. Some parts of the tumor were hypercellular with a fascicular arrangement (Antoni A pattern); other parts were weakly cellular with a myxoid arrangement (Antoni B pattern). Several Verocay bodies and a lot of hemorrhagic suffusions were described. Mitotic figures were very rare. Immunohistochemistry staining showed that tumor cells were positive for PS100 and vimentin.
CONCLUSION
Although ciliary body schwannoma is extremely rare, it should be considered in the differential diagnosis of intraocular tumors.
PubMed: 36620714
DOI: 10.18502/jovr.v17i4.12339 -
Journal of Clinical Oncology : Official... Nov 2019Treatment abandonment because of enucleation refusal is a limitation of improving outcomes for children with retinoblastoma in countries with limited resources....
Delayed Enucleation With Neoadjuvant Chemotherapy in Advanced Intraocular Unilateral Retinoblastoma: AHOPCA II, a Prospective, Multi-Institutional Protocol in Central America.
PURPOSE
Treatment abandonment because of enucleation refusal is a limitation of improving outcomes for children with retinoblastoma in countries with limited resources. Furthermore, many children present with buphthalmos and a high risk of globe rupture during enucleation. To address these unique circumstances, the AHOPCA II protocol introduced neoadjuvant chemotherapy with delayed enucleation.
PATIENTS AND METHODS
Patients with advanced unilateral intraocular disease (International Retinoblastoma Staging System [IRSS] stage I) were considered for upfront enucleation. Those with diffuse invasion of the choroid, postlaminar optic nerve, and/or anterior chamber invasion received six cycles of adjuvant chemotherapy (vincristine, carboplatin, and etoposide). Patients with buphthalmos and those with a perceived risk for enucleation refusal and/or abandonment were given two to three cycles of chemotherapy before scheduled enucleation followed by adjuvant chemotherapy to complete six cycles, regardless of pathology.
RESULTS
A total of 161 patients had unilateral IRSS stage I disease; 102 underwent upfront enucleation, and 59 had delayed enucleation. The estimated 5-year abandonment-sensitive event-free and overall survival rates for the group were 0.81 ± 0.03 and 0.86 ± 0.03, respectively. The 5-year estimated abandonment-sensitive event-free survival rates for patients undergoing upfront and delayed enucleation were 0.89 ± 0.03 and 0.68 ± 0.06, respectively ( = .001). Compared with AHOPCA I, abandonment for patients with IRSS stage I retinoblastoma decreased from 16% to 4%.
CONCLUSION
AHOPCA describes the results of advanced intraocular retinoblastoma treated with neoadjuvant chemotherapy. In eyes with buphthalmos and patients with risk of abandonment, neoadjuvant chemotherapy can be effective when followed by enucleation and adjuvant chemotherapy. Our study suggests that this approach can save patients with buphthalmos from ocular rupture and might reduce refusal of enucleation and abandonment.
Topics: Antineoplastic Combined Chemotherapy Protocols; Carboplatin; Central America; Chemotherapy, Adjuvant; Child; Child, Preschool; Disease Progression; Etoposide; Eye Enucleation; Female; Humans; Infant; Male; Neoadjuvant Therapy; Neoplasm Staging; Progression-Free Survival; Prospective Studies; Retinal Neoplasms; Retinoblastoma; Risk Factors; Time Factors; Time-to-Treatment; Treatment Refusal; Vincristine
PubMed: 31536438
DOI: 10.1200/JCO.18.00141