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Molecular Vision 2023To describe a novel association of variants with congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic...
PURPOSE
To describe a novel association of 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 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 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 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 gene could have a possible role in the pathogenesis of congenital and juvenile onset open-angle glaucomas needs further evaluation.
Topics: Female; Humans; Child; Glaucoma, Open-Angle; Glaucoma; Hydrophthalmos; Mutation; Pedigree; Microfilament Proteins; Receptors, Cell Surface; Transforming Growth Factor beta; Alopecia; Growth Disorders; Optic Atrophies, Hereditary; Extracellular Matrix Proteins; Anodontia
PubMed: 38577561
DOI: No ID Found -
Indian Journal of Ophthalmology May 2024Keratoconus eyes develop corneal decompensation more often compared to eyes with primary congenital glaucoma (PCG) following Descemet's membrane (DM) tear. This study... (Comparative Study)
Comparative Study
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.
Topics: Humans; Keratoconus; Tomography, Optical Coherence; Cross-Sectional Studies; Female; Male; Adult; Cornea; Young Adult; Intraocular Pressure; Descemet Membrane; Adolescent; Child; Corneal Edema; Glaucoma; Hydrophthalmos; Keratoplasty, Penetrating; Visual Acuity; Corneal Topography
PubMed: 38317296
DOI: 10.4103/IJO.IJO_1527_23 -
Cureus Dec 2023Retinoblastoma (RB) is a malignant tumour that develops from the immature cells of the retina. It is the most frequent type of paediatric intraocular cancer and is...
BACKGROUND
Retinoblastoma (RB) is a malignant tumour that develops from the immature cells of the retina. It is the most frequent type of paediatric intraocular cancer and is curable. Clinical and histological findings after enucleation of the affected eye dictate not only the patient's secondary care but also their prognosis. We assessed the clinical and histopathologic predictors of survival among children with RB from two tertiary health facilities in Uganda.
METHODS
This retrospective research utilized archived formalin fixed and paraffin-embedded blocks of eye specimens enucleated between 2014 and 2016 at Mbarara University of Science and Technology (MUST) Pathology Department and Ruharo Eye Centre (REC) in Mbarara, Uganda. The specimens were then processed and stained with haematoxylin and eosin. The confirmation of RB was made to include the histologic stage and features of the tumor. Biographic data of the patients and clinical features, such as leukocoria, proptosis, phthisis, staphyloma and buphthalmos, were retrieved from the records.
RESULTS
Males (55.1%, n=43) dominated the study population (N=78). The median age was 31 months. The most common clinical sign was leukocoria (69.2%, n=52), and the most predominant histopathological stage was stage 1 (41%, n=32). Optic nerve (ON) invasion was seen in 38.5% (n=30), choroidal invasion in 29.5% (n=23), scleral invasion in 7.7% (n=6) and orbital extension in 16.7% (n=13) of the cases. Flexner-Wintersteiner rosettes were seen in 34.6% (n=27). Necrosis was a prominent feature (71.8%, n=56). The two-year survival was estimated to be 61.5% (n=48). Leukocoria (risk ratio (RR) 1.1), female gender (RR 1.4), intralaminar ON invasion (RR 7.6) and a lack of orbital extension (RR 7) were significant predictors of survival.
CONCLUSION
Leukocoria and proptosis are noticeable clinical signs of RB. Most patients present while in stage one although stage four presentation is also common. Leukocoria, ON invasion, orbital extension and gender are significant factors predictive of survival in patients with RB.
PubMed: 38226099
DOI: 10.7759/cureus.50605 -
American Journal of Ophthalmology Case... Mar 2024To describe a novel technique for repair of rhegmatogenous retinal detachment in an eye with a previous non-valved glaucoma drainage device, the Aurolab Aqueous Drainage...
PURPOSE
To describe a novel technique for repair of rhegmatogenous retinal detachment in an eye with a previous non-valved glaucoma drainage device, the Aurolab Aqueous Drainage Implant (AADI).
OBSERVATIONS
A 5-year-old child with bilateral primary congenital glaucoma presented with an inferior retinal detachment (RD) in the left eye. The left eye had a history of multiple surgical interventions including combined trabeculotomy and trabeculectomy done twice, AADI implantation and subsequently phacoaspiration with IOL implantation, 18 months prior to presentation. The left eye retinal detachment was managed by scleral buckling technique using the plate of the AADI as a buckling element without its explantation.
CONCLUSIONS
AND IMPORTANCE: Management of retinal detachment in eyes with a pre-existing glaucoma drainage device (GDD) is uniquely challenging. Explantation of the GDD would likely result in intractable glaucoma post-operatively, requiring another surgery. Use of the trimmed plate of the GDD itself as the buckling element helped in settling the RD and preserving intraocular pressure control.
PubMed: 38192606
DOI: 10.1016/j.ajoc.2023.101962 -
Klinische Monatsblatter Fur... Mar 2024Congenital aniridia is a severe malformation of almost all eye segments. In addition, endocrinological, metabolic, and central nervous systems diseases may be present....
PURPOSE
Congenital aniridia is a severe malformation of almost all eye segments. In addition, endocrinological, metabolic, and central nervous systems diseases may be present. In order to develop better treatment options for this rare disease, an aniridia center must be established. The purpose of this work is to summarize ophthalmic findings of aniridia subjects examined at the Department of Ophthalmology, Saarland University Medical Center in Homburg.
METHODS
Our retrospective single-center study included patients who underwent a comprehensive ophthalmic examination through the head of the KiOLoN ("Kinderophthalmologie", Orthoptics, Low Vision and Neuroophthalmology) Unit of the department between June 2003 and January 2022. Data at the first examination time point have been included.
RESULTS
Of 286 subjects, 556 eyes of (20.1 ± 20.1 years; 45.5% males) were included. There was nystagmus in 518 (93.7%) eyes, and strabismus in 327 (58.8%) eyes. There were 436 (78.4%) eyes with age-appropriate axial length, 104 (18.7%) eyes with microphthalmos, and 13 (2.3%) eyes with buphthalmos. There was iris malformation with atypical coloboma in 34 eyes (6.1%), more than 6 clock hours of iris remnants in 61 eyes (10.9%), less than 6 clock hours of iris remnants in 96 eyes (17.2%), and complete aniridia in 320 (57.5%) eyes. The patients were graded according to the following aniridia-associated keratopathy (AAK) stages: Stage 0 (96 eyes [17.2%], no keratopathy), Stage 1 (178 eyes [32.0%]), Stage 2 (107 eyes [19.2%]), Stage 3 (67 eyes [12.0%]), Stage 4 (62 eyes [11.1%]), Stage 5 (45 eyes [8.0%]). There was secondary glaucoma in 307 (55.5%), macular hypoplasia in 395 (71.4%), and congenital optic nerve head pathology in 223 (40.3%) eyes. The iris malformation type was significantly positively correlated with AAK stage, lens properties, presence of glaucoma, congenital macular, and optic nerve head properties (p < 0.001 for all), while complete aniridia showed the most complications.
CONCLUSIONS
At the Homburg Aniridia Center, the most common ophthalmic signs in congenital aniridia were AAK, iris malformation, cataract, and macular hypoplasia. The iris malformation type may indicate future expression of AAK, cataract, and glaucoma development and it is correlated with a congenital optic nerve head and macular pathology. Our registry will support further detailed longitudinal analysis of ophthalmic and systemic diseases of aniridia subjects during long-term follow-up.
Topics: Male; Humans; Aged, 80 and over; Female; Cross-Sectional Studies; Retrospective Studies; Aniridia; Cataract; Corneal Diseases; Glaucoma; Vision Disorders
PubMed: 37647922
DOI: 10.1055/a-2065-8405 -
American Journal of Ophthalmology Dec 2023To evaluate the outcomes of microcatheter-assisted trabeculotomy (MAT) in childhood glaucoma (primary congenital glaucoma [PCG], juvenile open-angle glaucoma [JOAG], and...
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.
Topics: Humans; Infant; Child, Preschool; Child; Adolescent; Young Adult; Adult; Trabeculectomy; Glaucoma, Open-Angle; Retrospective Studies; Treatment Outcome; Hydrophthalmos; Glaucoma; Intraocular Pressure; Trabecular Meshwork; Follow-Up Studies
PubMed: 37516402
DOI: 10.1016/j.ajo.2023.07.019 -
Indian Journal of Ophthalmology May 2023The research activity in pediatric glaucoma (PG) was qualitatively and quantitatively evaluated using a scientometric approach.
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.
Topics: Child; Humans; Bibliometrics; Publications; Hydrophthalmos; Glaucoma; India
PubMed: 37203096
DOI: 10.4103/IJO.IJO_2998_22 -
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 -
Indian Journal of Ophthalmology Dec 2022To study the clinical and demographic profile of patients less than 40 years of age presenting to glaucoma services including the reasons for referral.
PURPOSE
To study the clinical and demographic profile of patients less than 40 years of age presenting to glaucoma services including the reasons for referral.
METHODS
Patients in the age group of 5 to 39 years, visiting the glaucoma clinic, who were either suspected to have glaucoma or who had been newly/previously diagnosed with glaucoma were included in the study. After informed written consent, basic demographic details of the participants including age, gender, education, socioeconomic status, and family history were obtained. A comprehensive ophthalmological evaluation was performed by glaucoma specialists.
RESULTS
The proportion of glaucoma in the study population (n = 384) was found to be 31.25%, and the incidence of glaucoma among new patients was found to be 11.9%. Among all glaucomas (n = 120), 44.2% of patients had secondary glaucomas, 27.5% had primary glaucomas, and 28.3% had congenital glaucomas. Also, 67.3% of all glaucoma patients were males. Newly diagnosed glaucoma patients presented with a mean intraocular pressure (IOP) of 32.9 mmHg and mild-moderate disc damage with a mean cup-disc ratio of 0.65. Nearly one-third of them had a presenting visual acuity worse than 5/60. The most common reason for referral was raised IOP. Univariate and multivariate analysis revealed that the odds of developing glaucoma were less in females (P = 0.04) and in patients with a higher standard of living index (P < 0.001).
CONCLUSION
One-third of the patients had glaucoma and another one-third were suspects. Secondary glaucomas are more common than primary/congenital glaucomas. A comprehensive eye evaluation is a must, especially in those with predisposing factors.
Topics: Female; Male; Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Tertiary Healthcare; Glaucoma; Hydrophthalmos; India; Demography; Hospitals
PubMed: 36453311
DOI: 10.4103/ijo.IJO_963_22