RESUMO
PURPOSE: To evaluate the incidence of rise in intraocular pressure (IOP) in fellow eyes of patients with unilateral primary congenital glaucoma (PCG) and to identify risk factors for IOP increase over long-term follow-up. METHODS: The medical records of unilateral PCG patients who had completed at least 5 years of follow-up were reviewed retrospectively. The incidence of developing ocular hypertension / glaucoma in fellow eyes was analyzed. Fellow eye progressors were those which showed an increase in optic nerve cupping by at least 0.2 since the first presentation or had IOP of >21 mm Hg on two occasions. The risk factors for progression that were analyzed included IOP, visual acuity, axial length, central corneal thickness (CCT), corneal diameters (CD), presence or absence of angle dysgenesis on high-resolution anterior segment optical coherence tomography (AS-OCT), and morphology of aqueous outflow pathways. RESULTS: After a median follow-up of 8.2 years (range, 5-25.5) progression to bilateral disease was found in 17 of 54 patients (32%), of whom 8 (15%) developed ocular hypertension and 9 (17%) developed glaucoma in the fellow eye. Among the unaffected fellow eyes, those with a larger CD (>12 mm), measured after at least 5 years' follow-up, were ten times more likely to progress (P = 0.01; OR = 9.5 [95% CI, 1.7-54.3]). The presence of a patent supraciliary channel was significantly more frequently associated in fellow eyes compared with affected eyes on AS-OCT (OR = 1.4 [95% CI, 0.46-4.68]). CONCLUSIONS: One-third of unaffected fellow eyes of unilateral PCG eventually progress over time, most often after 5 years. Larger CD at follow-up in the fellow eye is strongly predictive for progression.
Assuntos
Progressão da Doença , Hidroftalmia , Pressão Intraocular , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Feminino , Masculino , Pressão Intraocular/fisiologia , Estudos Retrospectivos , Acuidade Visual/fisiologia , Seguimentos , Tomografia de Coerência Óptica/métodos , Criança , Pré-Escolar , Hidroftalmia/fisiopatologia , Hidroftalmia/diagnóstico , Fatores de Risco , Adolescente , Lactente , Tonometria Ocular , Hipertensão Ocular/fisiopatologia , Hipertensão Ocular/diagnóstico , Adulto , Adulto Jovem , Incidência , Glaucoma/fisiopatologia , Glaucoma/congênito , Glaucoma/diagnósticoAssuntos
Acuidade Visual , Humanos , Feminino , Masculino , Córnea/anormalidades , Córnea/patologia , Córnea/diagnóstico por imagem , Aberrações de Frente de Onda da Córnea/fisiopatologia , Aberrações de Frente de Onda da Córnea/diagnóstico , Lactente , Glaucoma/congênito , Glaucoma/fisiopatologia , Glaucoma/diagnóstico , Pressão Intraocular/fisiologia , Hidroftalmia/diagnóstico , Hidroftalmia/fisiopatologia , Hidroftalmia/cirurgia , Pré-EscolarRESUMO
PURPOSE: To study the fellow eyes of patients with unilateral primary congenital glaucoma (PCG) using optical coherence tomography angiography (OCTA) and compare them to normal age- and refractive error-matched healthy controls. METHODS: Using OCTA, the foveal avascular zone (FAZ) area, cup:disk ratio, vessel density (VD) of the optic nerve head (ONH) and peripapillary area and the macular VD in superficial (SCP) and deep vascular complexes in both 3 mm and 6 mm scans of both groups were compared. Clinical data included best-corrected visual acuity (BCVA), cycloplegic refraction, intraocular pressure (IOP), anterior and posterior segments examination findings, including ONH cup:disk ratio. RESULTS: A total of 48 eyes of 48 children (24 eyes in each group) were included. There was no difference in the mean retinal nerve fiber layer thickness, cup:disk ratio, baseline visual acuity, or spherical equivalent between groups (P > 0.05). In the 3 mm macular scan, the VD of the SCP at the fovea was significantly higher in the PCG group compared to controls (P = 0.04). In the ONH scans, there was a significantly reduced inside the disk VD in the PCG group compared to controls (P = 0.03). There was no significant difference in other macular and ONH vascular parameters between groups (P > 0.05). CONCLUSIONS: In our study cohort, there was no difference in most of the macular and ONH vascular parameters between groups. However, the fellow eyes of PCG patients exhibited higher VD of the SCP at the fovea and reduced inside the disk VD compared with control eyes.
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Angiofluoresceinografia , Pressão Intraocular , Macula Lutea , Disco Óptico , Vasos Retinianos , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Tomografia de Coerência Óptica/métodos , Masculino , Feminino , Disco Óptico/irrigação sanguínea , Disco Óptico/diagnóstico por imagem , Acuidade Visual/fisiologia , Vasos Retinianos/diagnóstico por imagem , Pressão Intraocular/fisiologia , Criança , Angiofluoresceinografia/métodos , Macula Lutea/irrigação sanguínea , Macula Lutea/diagnóstico por imagem , Pré-Escolar , Hidroftalmia/fisiopatologia , Hidroftalmia/diagnóstico , Células Ganglionares da Retina/patologia , Refração Ocular/fisiologia , Fibras Nervosas/patologia , Estudos RetrospectivosRESUMO
Keratoconus eyes develop corneal decompensation more often compared to eyes with primary congenital glaucoma (PCG) following Descemet's membrane (DM) tear. This study was conducted to compare the posterior corneal morphology in areas with DM breaks with regards to DM and pre-Descemet's layer (PDL) between the two. In this cross-sectional comparative study, anterior segment optical coherence tomography (AS-OCT) scans of the posterior cornea of advanced keratoconus eyes with hydrops ( n = 12), PCG eyes with Haab's striae ( n = 15), and healthy control eyes ( n = 14) were compared for DM-PDL morphology. These were further corroborated by the histopathology of corneal buttons from keratoconus ( n = 14) and PCG ( n = 13) cases obtained following penetrating keratoplasty and compared with controls (enucleated retinoblastoma globes, n = 6) on light microscopy and collagen IV immunostaining. AS-OCT showed a thicker median DM/PDL complex in PCG (80 µm) versus keratoconus eyes (36 µm, P = 0.01; Kruskal-Wallis test). The median height and length of detached DM-PDL were significantly more in keratoconus versus PCG (145 µm, 1766.1 ± 1320.6 µm vs. 26.5 µm, 453.3 ± 303.2 µm, respectively, P = 0.012; Kruskal-Wallis test). Type-1 DM/PDL detachment (seen as a characteristic taut chord) in keratoconus (90%) was the most common morphological pattern versus intracameral twin protuberance (92%) following DM breaks in PCG. Histopathology confirmed thicker DM in PCG (median: 63.4 µm) versus keratoconus eyes (median: 33.2 µm) or controls (27.1 µm) ( P = 0.001; Kruskal-Wallis test). Greater height/length of DM/PDL detachment compounded by poor healing response (lower DM/PDL thickness) probably causes more frequent corneal decompensation in keratoconus eyes when compared to PCG eyes following DM tears.
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Ceratocone , Tomografia de Coerência Óptica , Humanos , Ceratocone/diagnóstico , Ceratocone/complicações , Tomografia de Coerência Óptica/métodos , Estudos Transversais , Feminino , Masculino , Adulto , Córnea/patologia , Adulto Jovem , Pressão Intraocular/fisiologia , Lâmina Limitante Posterior/patologia , Adolescente , Criança , Edema da Córnea/diagnóstico , Edema da Córnea/etiologia , Glaucoma/diagnóstico , Glaucoma/congênito , Glaucoma/fisiopatologia , Glaucoma/etiologia , Hidroftalmia/diagnóstico , Hidroftalmia/complicações , Ceratoplastia Penetrante/métodos , Acuidade Visual , Topografia da Córnea/métodosRESUMO
OBJECTIVE: To report the profile of newly diagnosed childhood glaucoma using the Childhood Glaucoma Research Network (CGRN) classification, presenting over 1 year from across centers in India. DESIGN: Prospective observational multicentric study. SUBJECTS: Newly diagnosed children aged < 18 years diagnosed with childhood glaucoma according to CGRN criteria presenting between January and December 2019 to 13 centers across India. METHODS: All children underwent a comprehensive ocular examination, including examination under anesthesia for younger children, and were diagnosed with childhood glaucoma as per CGRN. Data were entered in a standard Excel chart. Refraction and visual acuity assessments were done when feasible. MAIN OUTCOME MEASURES: The profile of newly diagnosed childhood glaucoma in different parts of India and the severity of glaucoma at presentation. RESULTS: A total of 1743 eyes of 1155 children fulfilled the definition of glaucoma and were analyzed. Primary congenital glaucoma (PCG) comprised the single largest group (34.4%), most of which were infantile onset (19%). Neonatal-onset PCG comprised 6.2% of all glaucoma. Secondary glaucoma constituted 53.4% of all glaucoma, one-half of which were acquired conditions (28%), followed by isolated ocular anomalies (14.7%), glaucoma after cataract surgery (6.7%), and glaucoma with nonacquired systemic diseases (4.5%). Of the 1743 eyes with glaucoma, all 3 parameters for severity grading were available in 842 eyes, of which 501 (59.5%) eyes presented with mild, 320 (38%) with moderate, and 21 (2.5%) with severe glaucoma. Nearly one-third of the children (28.5%) were not brought back for follow-up after the initial treatment given. CONCLUSIONS: Our study has one of the largest numbers of consecutive children with glaucoma classified according to the CGRN classification. Despite a widely diverse population, the profile of childhood glaucoma was relatively uniform across India. Childhood glaucoma is a significant problem in India, primarily treated in tertiary care hospitals. The data presented may be the tip of the iceberg because we have only reported the children who reached the hospitals offering treatment for this challenging disease. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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Glaucoma , Hidroftalmia , Criança , Humanos , Recém-Nascido , Glaucoma/diagnóstico , Glaucoma/epidemiologia , Índia/epidemiologia , Pressão Intraocular , Acuidade Visual , Lactente , Pré-Escolar , AdolescenteRESUMO
PURPOSE: Evaluation of long-term functional and structural outcomes in patients with primary congenital glaucoma (PCG) based on visual acuity (VA), visual field (VF) using standard automated perimetry, and peripapillary retinal nerve fibre layer thickness (pRNFL). METHODS: We retrospectively reviewed medical records of all patients diagnosed with PCG in Denmark from 1977 to 2016. Severe vision loss was defined as VA <6/60 and/or VF >20 decibels (dB). Prognostic factors were evaluated in a correlation matrix. RESULTS: The median age of the 94 patients (153 PCG eyes) was 12 years (IQR 9-16). In PCG eyes 62% had VA ≥6/18 but 22% had <6/60. VA in the better seeing eye was ≥6/18 in 90% and <6/60 in 5%. VF was measured in 59 PCG eyes and the median mean defect was 5.1 dB (IQR 2.1-9.6) with 52% better than 6 dB and 9% worse than 20 dB. Generalized pRNFL was reduced below the age-expected 1st percentile in 29% of the 58 PCG eyes where pRNFL was measured. Poor VA, poor VF and reduced pRNFL were all correlated (p = 0.0001). More surgeries (p < 0.0001) and longer diagnostic delay (p = 0.004) were associated with poorer vision and to a lesser degree with poor VF pRNFL. CONCLUSION: In Denmark, most patients with bilateral PCG retain VA ≥6/18 in the better seeing eye. Poor VA was associated with poor VF. Longer diagnostic delay and more surgeries were associated with a poorer prognosis.
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Diagnóstico Tardio , Hidroftalmia , Humanos , Criança , Adolescente , Estudos Retrospectivos , Células Ganglionares da Retina , Testes de Campo Visual , Dinamarca/epidemiologia , Tomografia de Coerência Óptica , Pressão IntraocularRESUMO
PURPOSE: The aim of this study is to analyze the distribution of visual field (VF) mean defect (MD) in six subgroups of glaucoma patients at baseline and follow-up. METHODS: We assessed glaucoma patients treated in a Spanish tertiary care setting with a follow-up of at least 10 months. We have included 1036 visual fields and the following glaucoma subtypes: open-Angle Glaucoma (OAG); Angle-Closure Glaucoma (ACG); Congenital Glaucoma (CG); Ocular hypertension (OHT); Pseudoexfoliative Glaucoma (PSXG); Pigmentary Glaucoma (PG). We have calculated the baseline MD and the progression MD. We have stratified the MD progression in slow (MD rate > -0.5 dB/year); moderate (MD rate between -0.5 and -1 dB/year) fast (MD rate between -1 and -2 dB/year) and catastrophic (<-2 dB/year) progression and their glaucoma subtype. RESULTS: The glaucoma types with the worse baseline MD were CG and PG. We found significant differences after comparing the baseline MD of CG and OAG, ACG, OHT and between PG and OHT. Concerning the MD progression rate: OAG 73.54% showed slow MD progression rate; 9.85% fast; 7.3% moderate and 9.3% catastrophic. ACG 82.22% slow; 8.89% moderate; 2.22% fast and 6.67% catastrophic. CG 68.83% slow; 9.09% fast; 7.79% moderate and 14.29% catastrophic. OHT 88.6% slow; 6.14% moderate; 4.39% fast and 0.88% catastrophic. PSXG 63.24% slow, 13.24% moderate; 8.8% fast and 14.7% catastrophic. PG 89.29% slow; 3.57% moderate and 7.1% fast. CONCLUSIONS: The CG requires special attention because of its aggressive presentation and progression.
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Glaucoma de Ângulo Fechado , Glaucoma de Ângulo Aberto , Glaucoma , Hidroftalmia , Hipertensão Ocular , Humanos , Campos Visuais , Pressão Intraocular , Progressão da Doença , Testes de Campo Visual , Transtornos da Visão , Estudos RetrospectivosRESUMO
A 2-year-old girl presented for evaluation of glaucoma suspect status. Despite her lack of buphthalmia, her clear corneas, and absence of Haab's striae, she was found to have an intraocular pressure of 45 mm Hg in the right eye and 47 mm Hg in the left eye and significant optic nerve cupping. Both eyes were initially treated with goniotomies, trabeculotomies, and later Baerveldt glaucoma implants. She was diagnosed with Singleton-Merten syndrome from a DDX58 pathogenic variant, with congenital glaucoma, juvenile progressive high myopia, hypoplastic nails, and abnormal dentition.
Assuntos
Doenças da Aorta , Glaucoma , Hidroftalmia , Feminino , Humanos , Pré-Escolar , Glaucoma/diagnóstico , Glaucoma/etiologia , Glaucoma/cirurgia , Pressão IntraocularRESUMO
PURPOSE: To evaluate the outcomes of microcatheter-assisted trabeculotomy (MAT) in childhood glaucoma (primary congenital glaucoma [PCG], juvenile open-angle glaucoma [JOAG], and secondary childhood glaucoma [SCG]) after failed glaucoma surgery. DESIGN: Retrospective interventional case series. METHODS: Patients with childhood glaucoma who underwent MAT after failed glaucoma surgery with at least 12 months of follow-up were evaluated. Pre- and postoperative intraocular pressure (IOP) and the number of glaucoma medications were recorded and compared. Success was defined as an IOP ≤21 mm Hg with or without glaucoma medication. Analysis of variance was used to compare the glaucoma subgroups. RESULTS: Forty-five eyes (42 patients) with a median follow-up period of 19 months were included. The median age at the time of MAT was 10 (range, 0.8-33) years. The mean number of previous surgeries was 1.3 ± 0.5. The IOP had significantly reduced from baseline in all PCG, JOAG, and SCG patients (27.9 ± 4.5 vs 16.3 ± 8.0 mm Hg, P = .001; and 30.8 ± 9.4 vs 13.5 ± 3.0 mm Hg, P < .001; and 31.5 ± 7.1 vs 16.5 ± 5.3 mm Hg, P = .001, respectively). Fewer glaucoma medications were needed after MAT in all 3 groups (each P < .001). At the last visit, the total success rates in PCG, JOAG, and SCG were 93.8%, 100%, and 88.9%, respectively. No severe complications were observed. CONCLUSION: MAT can effectively manage PCG, JOAG, and SCG after failed surgeries, providing successful outcomes and no serious complications. Following failed glaucoma surgeries, MAT may offer these patients with childhood glaucoma an excellent opportunity to achieve IOP control.
Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Hidroftalmia , Trabeculectomia , Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Glaucoma de Ângulo Aberto/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Hidroftalmia/cirurgia , Glaucoma/cirurgia , Glaucoma/congênito , Pressão Intraocular , Malha Trabecular/cirurgia , SeguimentosRESUMO
PURPOSE: To determine the association between different neighborhood environment factors and the outcomes of childhood glaucoma. DESIGN: A retrospective cohort. PARTICIPANTS: Childhood glaucoma patients ≤ 18 years of age at the time of diagnosis. METHODS: A retrospective chart review of childhood glaucoma patients who presented to Boston Children's Hospital between 2014 and 2019. Data collected included etiology, intraocular pressure (IOP), management, and visual outcomes. Child Opportunity Index (COI) was used as a metric of neighborhood quality. MAIN OUTCOMES MEASURES: The association of visual acuity (VA) and IOP with COI scores using linear mixed-effect models, adjusting for individual demographics. RESULTS: A total of 221 eyes (149 patients) were included. Of these, 54.36% were male and 56.4% were non-Hispanic Whites. The median age at the time of presentation was 5 months for primary glaucoma and 5 years for secondary glaucoma. The median age at the last follow-up was 6 and 13 years for primary and secondary glaucoma, respectively. A chi-square test revealed that the COI, health and environment, social and economic, and education indexes between primary and secondary glaucoma patients were comparable. For primary glaucoma, the overall COI and a higher education index were associated with a lower final IOP (P < 0.05), and higher education index was associated with a lower number of glaucoma medications at the last follow-up (P < 0.05). For secondary glaucoma, higher overall COI, health and environment, social and economic, and education indices were associated with better final VA (lower logarithms of the minimum angle of resolution VA) (P < 0.001). CONCLUSIONS: Neighborhood environment quality is a potentially important variable for predicting outcomes in childhood glaucoma. Lower COI scores were associated with worse outcomes. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Glaucoma , Hidroftalmia , Criança , Humanos , Masculino , Feminino , Estudos Retrospectivos , Glaucoma/epidemiologia , Glaucoma/diagnóstico , Pressão Intraocular , Características da VizinhançaRESUMO
Purpose: The research activity in pediatric glaucoma (PG) was qualitatively and quantitatively evaluated using a scientometric approach. Methods: The "Web of Science" database was accessed for primary bibliometric data regarding PG using search terms "pediatric glaucoma," "paediatric glaucoma," "congenital glaucoma," and "childhood glaucoma." The data was analyzed for total research productivity, citations, and scientific output in terms of journals, countries, institutions, and authors. The results were further characterized for coauthorship links and visualized by VOS viewer software. Also, the top 25 cited articles were reviewed with the above bibliometric characteristics. Results: One thousand two hundred and sixty-nine items were obtained from our search query from 1955 to 2022; these received 15,485 citations, originated from 78 countries. The top-3 contributing countries were the United States of America (n = 369), India (n = 134), and China (n = 127). LV Prasad Eye Institute (n = 58), Duke University (n = 44), and King Khalid Eye Specialist Hospital (n = 42) were the top-3 productive institutes. The top-3 prolific authors were Mandal AK (n = 53), Freedman, SF (n = 36), and Sarfarazi, M (n = 33). Journal wise, "Investigative Ophthalmology" (n = 187), "Journal of Glaucoma" (n = 92), and "Journal of AAPOS" (n = 68) were the journals in which the most articles were published. The top-25 cited documents received 3564 citations and were published between 1977 and 2016. The key areas of interest were basic sciences (genetics of childhood glaucoma) and surgical management. Conclusion: United States of America, LVPEI, Mandal AK, and "Investigative Ophthalmology" were the top rankers as far as the productivity and publications related to PG are concerned. Articles on molecular genetics in PG have received interest among the ophthalmology community.
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Glaucoma , Hidroftalmia , Criança , Humanos , Bibliometria , Publicações , Índia/epidemiologiaRESUMO
Glaucoma in infancy and childhood is a rare disease. An immediate diagnosis and treatment are absolutely necessary to prevent blindness of affected children. Childhood glaucoma is characterized by a heterogeneous phenotype: besides primary congenital glaucoma, secondary types often exist and the individualized treatment requires an experienced interdisciplinary team. The pathogenesis is not always discernible and genetic alterations sometimes cause the disease. A surgical procedure is usually necessary to lower the intraocular pressure. Refractive and orthoptic care are equally important to avoid amblyopia. This article gives an overview of childhood glaucoma and outlines the most important diagnostic and therapeutic aspects.
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Glaucoma , Hidroftalmia , Trabeculectomia , Humanos , Glaucoma/congênito , Hidroftalmia/complicações , Pressão Intraocular , Trabeculectomia/efeitos adversos , Tonometria Ocular/efeitos adversosRESUMO
Rubinstein-Taybi syndrome, also known as broad thumb-hallux syndrome, is a rare autosomal dominant genetic disorder. This multiorgan syndrome is linked to a pathogenic mutation in the CREBBP or EBP300 genes.We present a patient with a hitherto unreported constellation of anterior segment abnormalities, including congenital glaucoma, congenital corneal keloid, cataract, and distinct facial and systemic features including a high-arched palate, low-set posteriorly rotated ears, Café-au-lait spots on the back, broad terminal phalanges of hands and feet, and bilateral cryptorchidism. The characteristic dysgenetic angle features and ultrasound biomicroscopic findings described in this case report show the occurrence of concomitant congenital keloid with glaucoma.Genetic testing revealed a heterozygous one-base pair duplication in exon 3 of the CREBBP gene (c.886dupC), a novel frameshift pathogenic mutation in the CREBBP gene that has not been previously reported in a clinical setting.
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Glaucoma , Hidroftalmia , Queloide , Síndrome de Rubinstein-Taybi , Masculino , Humanos , Lactente , Síndrome de Rubinstein-Taybi/complicações , Síndrome de Rubinstein-Taybi/diagnóstico , Síndrome de Rubinstein-Taybi/genética , Mutação , Mutação da Fase de Leitura , Proteína de Ligação a CREB/genéticaAssuntos
Glaucoma , Hidroftalmia , Disco Óptico , Humanos , Glaucoma/diagnóstico , Glaucoma/etiologiaRESUMO
PURPOSE: To report and characterize unexpected retinal findings identified by imaging with overhead-mounted optical coherence tomography (OCT) in 2 young children with infantile-onset glaucoma. METHODS: Children with glaucoma were imaged during clinically indicated examinations under anesthesia using overhead-mounted HRA+OCT Spectralis with Flex module (Flex-OCT, Heidelberg, Germany) from February 2017 through February 2022. Imagers prioritized scans of the peripapillary retinal nerve fiber layer (pRNFL), optic nerve head, and macula. Children imaged before age 2 years with images adequate for evaluation were included. Age at glaucoma diagnosis, glaucoma type, highest intraocular pressure (IOP), corneal diameter (CD), and axial length (AL) were recorded. RESULTS: A total of 41 children (71 eyes with glaucoma) were imaged before age 2 years. Macular imaging identified both inner and outer retinal thinning in 3 eyes of 2 young children (both eyes of a child with newborn primary congenital glaucoma (PCG) and 1 eye of a child with glaucoma following cataract surgery), which remained stable over time. These findings were present in 2 of 41 children (4.9%) and 3 of 71 eyes (4.2%) imaged with Flex-OCT. Neither highest IOP, CD, nor AL at imaging differentiated the 3 eyes with retinal changes from the larger group. CONCLUSIONS: Three eyes of 2 young children with refractory glaucoma of different etiologies and highly elevated IOP demonstrated areas of inner and outer retinal thinning, consistent with retinal injury from probable prior macular ischemia. Unexpected retinal pathology identified on Flex-OCT imaging in infantile-onset glaucomas highlights the need for continued study of the pathophysiology of this disease.
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Traumatismos Oculares , Glaucoma , Hidroftalmia , Disco Óptico , Doenças Retinianas , Recém-Nascido , Criança , Humanos , Pré-Escolar , Tomografia de Coerência Óptica/métodos , Células Ganglionares da Retina/patologia , Glaucoma/diagnóstico , Disco Óptico/patologia , Retina , Doenças Retinianas/patologia , Pressão IntraocularRESUMO
PURPOSE: To report wide-field fundus imaging and fluorescein angiography findings in conditions mimicking retinoblastoma (pseudoretinoblastoma). METHODS: The clinical and imaging records of 28 patients (36 eyes) imaged with RetCam 3 (Clarity Medical Systems, Inc) wide-field fundus photography and fluorescein angiography who were diagnosed as having various pseudoretinoblastoma disorders between February 2020 and August 2021 were retrospectively evaluated. RESULTS: Most patients were referred with suspicion of retinoblastoma. Other patients had unresolved eye conditions and received initial treatment elsewhere and they were referred later for exclusion of retinoblastoma. On RetCam fundus photography and fluorescein angiography, pseudoretinoblastoma conditions were diagnosed as Coats disease (9 eyes), congenital glaucoma (3 eyes), persistent fetal vasculature (3 eyes), familial exudative vitreoretinopathy (2 eyes), retinopathy of prematurity (2 eyes), myelinated retinal nerve fibers (2 eyes), optic nerve hypoplasia (2 eyes), oculocutaneous albinism (2 eyes), meridional fold (2 eyes), combined hamartoma of retina and retinal pigment epithelium (2 eyes), grouped congenital hypertrophy of the retinal pigment epithelium (1 eye), retinal astrocytic hamartoma (1 eye), morning glory syndrome (1 eye), optic glioma (1 eye), giant choroidal nevus (1 eye), vasculitis (1 eye), and chorioretinitis (1 eye). RetCam imaging and fluorescein angiography demonstrated telangiectasias, microaneurysms, submacular exudation/fibrosis, capillary non-perfusion, and exudation posterior to telangiectasias in Coats disease. Hypofluorescent optic discs, peripheral non-perfusion, and vascular leakage were observed in congenital glaucoma. Large areas of capillary non-perfusion, poor foveal morphology/formation, elongated ciliary processes with hyperfluorescent central core, and hyperfluorescent fibrovascular stalk at the posterior pole were hallmarks of persistent fetal vasculature. CONCLUSIONS: RetCam wide-field fundus imaging and fluorescein angiography play an important role in the diagnosis of conditions simulating retinoblastoma. [J Pediatr Ophthalmol Strabismus. 2023;60(1):60-74.].
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Hidroftalmia , Vítreo Primário Hiperplásico Persistente , Neoplasias da Retina , Telangiectasia Retiniana , Retinoblastoma , Recém-Nascido , Humanos , Angiofluoresceinografia/métodos , Estudos Retrospectivos , Vítreo Primário Hiperplásico Persistente/diagnóstico , Neoplasias da Retina/diagnósticoRESUMO
PURPOSE: To determine the nationwide birth cohort incidence of infantile cataract (IC) surgery and the risk of secondary glaucoma in a Korean population. DESIGN: A population-based, retrospective cohort study. METHODS: We accessed the Korean National Health Claims database to identify patients with IC who were diagnosed before 1 year of age and who underwent IC surgery among all Koreans born between 2008 and 2018 (n = 9,593,003). We estimated IC surgery incidence in a birth cohort. The incidence rates of post-IC surgery glaucoma were estimated per 100 person-years, based on the Poisson distribution. The risk factors for post-IC surgery glaucoma, including ophthalmic and systemic comorbidities, were analyzed by multivariable logistic regression analysis. RESULTS: During the 11-year study period, 692 patients underwent IC surgery. The annual birth cohort incidence of IC surgery in the general population ranged from 5.10 to 9.29 cases per 100,000 individuals. Among patients who had been followed up for longer than 1 year (n = 650), 92 (14.2%) developed glaucoma, and its incidence rate was 2.29 (95% confidence interval, 1.86-2.80) per 100 person-years. The mean time from IC surgery to glaucoma development was 4.7 ± 3.5 years. No factors were identified as being associated with post-IC surgery glaucoma risk other than primary or secondary intraocular lens implantation, which reduces the risk (all P < .05). In patients without primary intraocular lens implantation, the risk of glaucoma increased steeply during the first 2 years after IC surgery. CONCLUSION: This study identified the birth cohort incidence of IC surgery and secondary glaucoma risk in individuals of East Asian ethnicity. These estimates may help to better understand the epidemiologic features and clinical courses of patients with IC.
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Extração de Catarata , Catarata , Glaucoma , Hidroftalmia , Humanos , Incidência , Estudos Retrospectivos , Coorte de Nascimento , Extração de Catarata/efeitos adversos , Catarata/complicações , Glaucoma/diagnóstico , Fatores de RiscoRESUMO
Purpose: To describe a novel association of TGFBI variants with congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome, as well as among other unrelated cases of juvenile onset open-angle glaucoma (JOAG) and primary congenital glaucoma (PCG). Methods: This study of one family of GAPO with congenital glaucoma and three unrelated patients with JOAG analyzed a common link to glaucoma pathogenesis. Three girls with GAPO syndrome born to consanguineous parents in a multi-generation consanguineous family were identified. Two of the girls had congenital glaucoma in both eyes, while the elder sibling (a 10-year-old female) had features of GAPO syndrome without glaucoma. Results: A genetic evaluation using whole exome sequencing revealed a novel homozygous ANTXR1 mutation in all three affected siblings with GAPO. No other mutations were detected in the genes associated with glaucoma. A rare missense variant in the TGFBI gene was shared in the two siblings with congenital glaucoma and GAPO syndrome. We found three other unrelated patients with JOAG and one patient with primary congenital glaucoma with no known glaucoma causing gene mutations, but having four different missense variants in the TGFBI gene. One of these patients with JOAG had familial granular corneal dystrophy. Molecular dynamic simulations of TGFBI and 3-D structural models of three of its variants showed significant alterations that could influence TGFBI protein function. Conclusions: The possibility that variations in the TGFBI gene could have a possible role in the pathogenesis of congenital and juvenile onset open-angle glaucomas needs further evaluation.