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The British Journal of Ophthalmology Oct 1962
Topics: Abnormalities, Multiple; Child; Consanguinity; Cryptorchidism; Eye Abnormalities; Eye Enucleation; Eyelids; Hernia, Umbilical; Humans; Hydrophthalmos; Male; Microphthalmos; Nose; Penis
PubMed: 18170825
DOI: 10.1136/bjo.46.10.629 -
Journal of Current Glaucoma Practice 2022To report an ocular juvenile xanthogranuloma (JXG) case presented with buphthalmos, corneal cloudiness, and normal intraocular pressure (IOP) in the neonatal period and...
AIM
To report an ocular juvenile xanthogranuloma (JXG) case presented with buphthalmos, corneal cloudiness, and normal intraocular pressure (IOP) in the neonatal period and treated with Ahmed glaucoma valve (AGV) implantation.
BACKGROUND
JXG is a rare disorder predominantly seen in infants, but the neonatal presentation is extraordinary. Although spontaneous hyphema is a common presenting sign in JXG, buphthalmos and corneal opacity in the neonatal period were reported only in one case, which had high IOP values at presentation.
CASE PRESENTATION
Sixteen-day-old male patient presented with buphthalmos, diffuse corneal clouding, and 11 mm Hg of IOP value in the right eye. IOP increased to 28 mm Hg three weeks later, and spontaneous hyphema developed, which did not respond to antiglaucomatous medications and topical corticosteroids. AGV was implanted, and the IOP decreased to 13 mm Hg postoperatively. In the follow-ups, numerous firm yellowish nodules were noticed on the patient's skin during the examination under general anesthesia. Histopathological examination of the skin nodules was compatible with the diagnosis of JXG. Lens subluxation and phacodonesis were developed during the follow-up and were managed with pars plana lensectomy. After a silent period of 3 months, epithelial ingrowth was determined around the side port entrance. Unfortunately, the ingrowth did not respond to cryotherapy and resulted in phthisis bulbi. Pathological evaluation of the enucleated phthisic eye revealed posterior segment involvement.
CONCLUSION
Ocular JXG can be present with buphthalmos, corneal opacity, and normal IOP values without any skin lesions in the neonatal period. Neonatal presentation of JXG may be associated with limited medical therapy response and aggressive disease course.
CLINICAL SIGNIFICANCE
This case report introduces the second ocular JXG case, which presented with buphthalmos and corneal cloudiness, and the third pathologically proven posterior segment involvement of JXG in the literature.
HOW TO CITE THIS ARTICLE
Dericioglu V, Sevik MO, Eraslan M, Juvenile Xanthogranuloma Presented with Buphthalmos and Corneal Clouding in Neonatal Period: A Case Report. J Curr Glaucoma Pract 2022;16(2):128-131.
PubMed: 36128087
DOI: 10.5005/jp-journals-10078-1369 -
BMC Ophthalmology Feb 2020The primary aim was to estimate the incidence of primary and secondary childhood glaucoma in Scotland over a 2-year period. The secondary aim was to gauge the confidence...
BACKGROUND
The primary aim was to estimate the incidence of primary and secondary childhood glaucoma in Scotland over a 2-year period. The secondary aim was to gauge the confidence and experience of ophthalmologists in Scotland in managing these patients.
METHODS
A 7 question electronic survey was distributed to all consultant members of the Scottish Paediatric Club and Scottish Glaucoma Club. Respondents were asked to report the number of cases and types of childhood glaucoma they had managed in the last 2 years. Respondents were also asked about experience and confidence in a range of glaucoma procedures, number of patients requiring referral to specialist centres and interest in the development of a centre of excellence in Scotland.
RESULTS
The survey returned a 56% response rate, reporting 85 new cases of paediatric glaucoma in Scotland over the preceding 2 years. 11 (12.9%) had primary glaucoma and 74 (87.1%) had secondary glaucoma. The most common subtype of secondary glaucoma was uveitic glaucoma (n = 29). None of the respondents declared confidence or experience in trabeculotomy or goniotomy procedures. Eleven children required referral to a specialist unit outside Scotland. 85.7% of respondents felt Scotland would benefit from a specialist unit for paediatric glaucoma.
CONCLUSIONS
This survey reflects an appetite for a specialist service for paediatric glaucoma in Scotland. However, further consideration is needed to determine if there is sufficient patient load to maintain such a service.
Topics: Child; Child, Preschool; Female; Glaucoma Drainage Implants; Glaucoma, Open-Angle; Health Surveys; Humans; Hydrophthalmos; Incidence; Intraocular Pressure; Male; Practice Patterns, Physicians'; Referral and Consultation; Scotland; Surveys and Questionnaires; Trabeculectomy
PubMed: 32103740
DOI: 10.1186/s12886-020-01347-7 -
Indian Journal of Ophthalmology Jul 2022Childhood glaucoma is a treatable cause of blindness, provided it is recognized, diagnosed, and treated in time. WHO has estimated that it is responsible for Blind Years... (Review)
Review
Childhood glaucoma is a treatable cause of blindness, provided it is recognized, diagnosed, and treated in time. WHO has estimated that it is responsible for Blind Years second only to cataracts. The fundamental pathophysiology of all childhood glaucoma is impaired outflow through the trabecular meshwork. Anterior segment Dysgeneses (ASD) are a group of non-acquired ocular anomalies associated with glaucoma, characterized by developmental abnormalities of the tissues of the anterior segment. The cause is multifactorial, and many genes are involved in the development of the anterior segment. Over the last decade, molecular and developmental genetic research has transformed our understanding of the molecular basis of ASD and the developmental mechanisms underlying these conditions. Identifying the genetic changes underlying ASD has gradually led to the recognition that some of these conditions may be parts of a disease spectrum. The characterization of genes responsible for glaucoma is the critical first step toward developing diagnostic and screening tests, which could identify individuals at risk for disease before irreversible optic nerve damage occurs. It is also crucial for genetic counseling and risk stratification of later pregnancies. It also aids pre-natal testing by various methods allowing for effective genetic counseling. This review will summarize the known genetic variants associated with phenotypes of ASD and the possible significance and utility of genetic testing in the clinic.
Topics: Anterior Eye Segment; Eye Abnormalities; Female; Glaucoma; Humans; Hydrophthalmos; Mutation; Pregnancy
PubMed: 35791109
DOI: 10.4103/ijo.IJO_3223_21 -
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 -
Turkish Journal of Ophthalmology Dec 2019Primary congenital glaucoma (PCG) continues to be an important cause of visual impairment in children despite advances in medical and surgical treatment options. The... (Review)
Review
Primary congenital glaucoma (PCG) continues to be an important cause of visual impairment in children despite advances in medical and surgical treatment options. The progressive and blinding nature of the disease, together with the long lifespan of the affected population, necessitates a thorough understanding of the pathophysiology of PCG and the development of long-lasting treatment options. The first part of this review discusses the genetic features and makeup of this disorder, including all currently identified genetic loci (GLC3A, GLC3B, GLC3C and GLC3D) and relevant protein targets important for trabecular and Schlemm canal dysgenesis. These target molecules primarily include CYP1B1, LTBP2, and TEK/Tie2 proteins. Their potential roles in PCG pathogenesis are discussed with the purpose of bringing the readers up to date on the molecular genetics aspect of this disorder. Special emphasis is placed on functional implications of reported genetic mutations in the setting of PCG. The second part of the review focuses on various modifications and refinements to the traditional surgical approaches performed to treat PCG, including advances in goniotomy and trabeculotomy ab externo techniques, glaucoma drainage implant surgery and cyclodiode photocoagulation techniques that ultimately provide safer surgical approaches and more effective intraocular pressure control in the 21 century.
Topics: Ciliary Body; Genetic Loci; Glaucoma Drainage Implants; Humans; Hydrophthalmos; Intraocular Pressure; Laser Coagulation; Prosthesis Implantation; Trabeculectomy
PubMed: 31893591
DOI: 10.4274/tjo.galenos.2019.28828 -
Ophthalmologica. Journal International... 1962
Topics: Cornea; Eye Diseases, Hereditary; Genetic Diseases, X-Linked; Hydrophthalmos
PubMed: 13987474
DOI: 10.1159/000304366 -
Acta Ophthalmologica Sep 2011Glaucoma as understood today could not have been detected before the means to see the optic nerve and reliably measure the intraocular pressure were available after the...
Glaucoma as understood today could not have been detected before the means to see the optic nerve and reliably measure the intraocular pressure were available after the mid-1850s. One form, however, manifested itself as a visible enlargement of the globe and was thus recognized since antiquity. This article traces the nomenclature, signs and symptoms, and treatment of buphthalmos from the ancient Greeks to the second half of the 19th century, when the present methods began.
Topics: History, 15th Century; History, 16th Century; History, 17th Century; History, 18th Century; History, 19th Century; History, 20th Century; History, Ancient; History, Medieval; Humans; Hydrophthalmos; Intraocular Pressure; Ophthalmology; Terminology as Topic
PubMed: 20529079
DOI: 10.1111/j.1755-3768.2009.01783.x