Acute Angle Closure in Knobloch Syndrome

Wawrzynski, James; Than, Jonathan; Gillam, Matthew; Foster, Paul J.

doi:10.1097/ijg.0000000000001781

Cited by 5 publications

(2 citation statements)

References 12 publications

(30 reference statements)

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“…KS is typically associated with high myopia, retinal detachment, lens subluxation, and occipital encephalocele [ 131 ]. Other ocular anomalies, such as early-onset and acute angle closure glaucomas, have also been observed in KS patients [ 132 , 133 ]. To the best of our knowledge, only three studies in literature have reported COL18A1 -associated angle closure glaucomas in KS patients, suggesting a role for COL18A1 in iridocorneal angle closure [ 112 , 132 , 133 ].…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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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“…Only one Chinese family was reported to have a homozygous COL18A1 mutation [9]. However, the clinical appearance in this family was limited, due to the opacity of the optical media (Supplementary Table S1, COL18A1 mutation of patients with KS) [3,[10][11][12][13][14][15][16][17][18][19][20][21].…”

Section: Introductionmentioning

confidence: 99%

Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population

You

Sun

et al. 2021

Genes

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Knobloch syndrome is an inherited disorder characterized by high myopia, retinal detachment, and occipital defects. Disease-causing mutations have been identified in the COL18A1 gene. This study aimed to investigate novel variants of COL18A1 in Knobloch syndrome and describe the associated phenotypes in Chinese patients. We reported six patients with Knobloch syndrome from four unrelated families in whom we identified five novel COL18A1 mutations. Clinical examination showed that all probands presented with high myopia, chorioretinal atrophy, and macular defects; one exhibited rhegmatogenous retinal detachment in one eye. Occipital defects were detected in one patient.

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Multiple drugs

2021

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Acute Angle Closure in Knobloch Syndrome

Cited by 5 publications

References 12 publications

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

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

Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population

Multiple drugs

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