Approach to childhood glaucoma: A review

Karaconji, Tanya; Zagora, Sophia; Grigg, John

doi:10.1111/ceo.14039

Cited by 21 publications

(9 citation statements)

References 83 publications

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“…These include buphthalmos with increased corneal diameter and axial length, Haab's striae (breaks in Descemet's membrane), and corneal edema, which results in photophobia, blepharospasm, and epiphora. 73,74 Especially in toddlers where IOP readings obtained in clinic may not be accurate due to poor cooperation, attention should be paid to changes in visual function, ocular preference, strabismus measurements, corneal clarity, cycloplegic refraction, and optic nerve appearance.…”

Section: Glaucoma In Arsmentioning

confidence: 99%

“…While glaucomatous optic neuropathy first affects the visual field and at late stages central visual acuity, other consequences of elevated IOP in children with ARS can impact visual outcomes. 73,74 Haab's striae directly impair vision if present in the central visual axis but also indirectly affect vision by inducing high amounts of irregular astigmatism. Further, increased axial length associated with buphthalmos can lead to significant myopia.…”

Section: Visual Outcomes In Arsmentioning

confidence: 99%

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Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Michels¹,

Bohnsack²

2023

OPTH

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Axenfeld-Rieger syndrome (ARS) is a rare congenital disease that is primarily characterized by ocular anterior segment anomalies but is also associated with craniofacial, dental, cardiac, and neurologic abnormalities. Over half of cases are linked with autosomal dominant mutations in either FOXC1 or PITX2, which reflects the molecular role of these genes in regulating neural crest cell contributions to the eye, face, and heart. Within the eye, ARS is classically defined as the combination of posterior embryotoxon with iris bridging strands (Axenfeld anomaly) and iris hypoplasia causing corectopia and pseudopolycoria (Rieger anomaly). Glaucoma due to iridogoniodysgenesis is the main source of morbidity and is typically diagnosed during infancy or childhood in over half of affected individuals. Angle bypass surgery, such as glaucoma drainage devices and trabeculectomies, is often needed to obtain intraocular pressure control. A multi-disciplinary approach including glaucoma specialists and pediatric ophthalmologists produces optimal outcomes as vision is dependent on many factors including glaucoma, refractive error, amblyopia and strabismus. Further, since ophthalmologists often make the diagnosis, it is important to refer patients with ARS to other specialists including dentistry, cardiology, and neurology.

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Section: Glaucoma In Arsmentioning

confidence: 99%

Section: Visual Outcomes In Arsmentioning

confidence: 99%

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Michels¹,

Bohnsack²

2023

OPTH

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“…Prognosis and management of CG relies principally on prompt, precise diagnosis, and effective control of the IOP and prevention of amblyopia to preserve visual function [ 18 – 20 ]. Medical management with both topical and oral drugs can be used as a temporary modality or as an adjunct to surgery, but surgery remains the predominant treatment in order to control the IOP [ 3 , 19 ]. However, periodic examinations and lifelong follow-ups are essential, as congenital glaucoma can worsen with complications impairing the visual function later in life [ 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project

Al-Saei,

Malka,

Owen

et al. 2024

BMC Genomics

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Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis and unlocking the potential for optimising clinical management. In this study, we investigated 86 CG cases from 78 unrelated families of diverse ethnic backgrounds, recruited into the Genomics England 100,000 Genomes Project (GE100KGP) rare disease cohort, to improve the genetic diagnostic yield. Using the Genomics England/Genomic Medicine Centres (GE/GMC) diagnostic pipeline, 13 unrelated families were solved (13/78, 17%). Further interrogation using an expanded gene panel yielded a molecular diagnosis in 7 more unrelated families (7/78, 9%). This analysis effectively raises the total number of solved CG families in the GE100KGP to 26% (20/78 families). Twenty-five percent (5/20) of the solved families had primary congenital glaucoma (PCG), while 75% (15/20) had secondary CG; 53% of this group had non-acquired ocular anomalies (including iris hypoplasia, megalocornea, ectopia pupillae, retinal dystrophy, and refractive errors) and 47% had non-acquired systemic diseases such as cardiac abnormalities, hearing impairment, and developmental delay. CYP1B1 was the most frequently implicated gene, accounting for 55% (11/20) of the solved families. We identified two novel likely pathogenic variants in the TEK gene, in addition to one novel pathogenic copy number variant (CNV) in FOXC1. Variants that passed undetected in the GE100KGP diagnostic pipeline were likely due to limitations of the tiering process, the use of smaller gene panels during analysis, and the prioritisation of coding SNVs and indels over larger structural variants, CNVs, and non-coding variants.

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“…Childhood glaucoma is typically diagnosed clinically on the basis of intraocular pressure elevation, signs of glaucomatous optic nerve damage, corneal changes, or visual field defects consistent with glaucomatous optic nerve damage [ 2 ]. In some cases, genetic testing can establish a molecular diagnosis as many forms of childhood glaucoma, including primary congenital glaucoma (PCG), juvenile open angle glaucoma (JOAG), and glaucoma associated with non-acquired ocular or systemic diseases, have been associated with underlying genetic changes [ 3 ]. Understanding these genetic changes has the potential to shed light on pathophysiologic mechanisms of disease, disease prognostication, and treatment implications.…”

Section: Introductionmentioning

confidence: 99%

Genetic changes and testing associated with childhood glaucoma: A systematic review

Kumar,

Han,

Oatts

2024

PLoS ONE

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Many forms of childhood glaucoma have been associated with underlying genetic changes, and variants in many genes have been described. Currently, testing is variable as there are no widely accepted guidelines for testing. This systematic review aimed to summarize the literature describing genetic changes and testing practices in childhood glaucoma. This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic review and Meta-Analyses (PRISMA) 2020 guidelines and registered with Prospero (ID CRD42023400467). A comprehensive review of Pubmed, Embase, and Cochrane databases was performed from inception through March 2, 2023 using the search terms: (glaucoma) AND (pediatric OR childhood OR congenital OR child OR infant OR infantile) AND (gene OR genetic OR genotype OR locus OR genomic OR mutation OR variant OR test OR screen OR panel). Information was extracted regarding genetic variants including genotype-phenotype correlation. Risk of bias was assessed using the Newcastle-Ottawa Scale. Of 1,916 records screened, 196 studies met inclusion criteria and 53 genes were discussed. Among study populations, mean age±SD at glaucoma diagnosis was 8.94±9.54 years and 50.4% were male. The most common gene discussed was CYP1B1, evaluated in 109 (55.6%) studies. CYP1B1 variants were associated with region and population-specific prevalence ranging from 5% to 86% among those with primary congenital glaucoma. MYOC variants were discussed in 31 (15.8%) studies with prevalence up to 36% among patients with juvenile open angle glaucoma. FOXC1 variants were discussed in 25 (12.8%) studies, which demonstrated phenotypic severity dependent on degree of gene expression and type of mutation. Overall risk of bias was low; the most common domains of bias were selection and comparability. Numerous genes and genetic changes have been associated with childhood glaucoma. Understanding the most common genes as well as potential genotype-phenotype correlation has the potential to improve diagnostic and prognostic outcomes for children with glaucoma.

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Approach to childhood glaucoma: A review

Cited by 21 publications

References 83 publications

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project

Genetic changes and testing associated with childhood glaucoma: A systematic review

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