Congenital Glaucoma and Anterior Segment Dysgenesis

2021 ◽  
pp. 175-187
Author(s):  
Chirakshi Dhull ◽  
Sudarshan Kumar Khokhar
Keyword(s):  
Anterior Segment ◽  
Congenital Glaucoma ◽  
Anterior Segment Dysgenesis

scholarly journals Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis

2022 ◽  
pp. 112067212110732
Author(s):  
Tejal Magan ◽  
Alexander Tanner ◽  
Julia Fajardo-Sanchez ◽  
Kin Sheng Lim ◽  
Saurabh Goyal ◽  
...  
Keyword(s):  
Anterior Segment ◽  
Congenital Glaucoma ◽  
Consecutive Series ◽  
Long Term Outcomes ◽  
Primary Congenital Glaucoma ◽  
Anterior Segment Dysgenesis ◽  
Long Term Follow Up ◽  
Advanced Glaucoma

Aim To determine the long-term outcomes of a cohort of complex patients with primary congenital glaucoma, aniridia and anterior segment dysgenesis. Methods Retrospective consecutive series between 1990–2021 in two UK tertiary centres: Guy's and St Thomas’ NHS Foundation Trust and King's College Hospital NHS Foundation Trust. We recorded the number and types of surgical and laser treatments along with preoperative and postoperative data, including intraocular pressures (IOP) and anti-glaucoma medications. Results A total of 41 eyes of 21 patients were included. Primary diagnoses were primary congenital glaucoma in 16 eyes (39.0%), aniridia in 14 eyes (34.2%), and anterior segment dysgenesis in 8 eyes (19.5%). Sixteen eyes (39.0%) had one or more glaucoma surgery or laser procedures for advanced glaucoma, and the long-term follow-up was 12.8 ± 3.6 years. There was a significant decrease in postoperative IOP (mmHg) at 3 months (16.5 ± 1.6; p = 0.0067), 6 months (18.7 ± 2.1; p = 0.0386), 12 months (18.6 ± 1.7; p = 0.0229), 3 years (14.7 ± 1.2; p = 0.0126), 5 years (15.5 ± 1.8; p = 0.0330) and 10 years (15.4 ± 2.3; p = 0.7780), compared to preoperatively (24.1 ± 2.6). Surgical success (complete and qualified) was 62.5%, 50.0%, 43.8%, 46.2%, 45.5% and 28.6% at 3 months, 6 months, 12 months, 3 years, 5 years and 10 years, respectively. There was no significant change in the number of anti-glaucoma drugs postoperatively ( p > 0.05). Four eyes (25.0%) had postoperative complications (hyphaema, hypotony) that resolved after conservative management. Conclusions Surgical management of these complex eyes with advanced glaucoma is challenging. Overall, the cohort had good surgical outcomes with a significant decrease in IOP by 36.1% after long-term follow-up.

Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma

2018 ◽  
Vol 56 (6) ◽  
pp. 823-826
Author(s):  
Kelly P. Schultz ◽  
Claire J. Wiggins ◽  
Haley Streff ◽  
Veeral S. Shah ◽  
Edward P. Buchanan
Keyword(s):  
Optic Nerve ◽  
Anterior Segment ◽  
Optic Nerve Hypoplasia ◽  
Congenital Glaucoma ◽  
Anterior Segment Dysgenesis

scholarly journals Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic CPAMD8 variants

2018 ◽  
Author(s):  
Owen M Siggs ◽  
Emmanuelle Souzeau ◽  
Deepa A Taranath ◽  
Tiger Zhou ◽  
Andrew Dubowsky ◽  
...  
Keyword(s):  
Intraocular Pressure ◽  
Genome Sequencing ◽  
Anterior Segment ◽  
Congenital Glaucoma ◽  
Compound Heterozygous ◽  
Ectopia Lentis ◽  
Developmental Abnormalities ◽  
Anterior Segment Dysgenesis ◽  
Phenotypic Spectrum ◽  
Compound Heterozygous Variants

AbstractPurposeCongenital glaucoma is a significant cause of irreversible blindness. In some instances glaucoma is associated with developmental abnormalities of the ocular anterior segment, which can impair drainage of aqueous humor, leading to an increase in intraocular pressure.MethodsGenome sequencing was performed on a parent-proband congenital glaucoma trio, with exome sequencing of 79 additional individuals with suspected primary congenital glaucoma.ResultsWe describe a unique ocular anterior segment dysgenesis associated with congenital glaucoma in four individuals from three unrelated families. In each case, disease was associated with compound heterozygous variants in CPAMD8, a gene of unknown function recently associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis. CPAMD8 expression was highest in neural crest-derived tissues of the adult anterior segment, suggesting that CPAMD8 variation may cause malformation of key drainage structures and the development of high intraocular pressure and glaucoma.ConclusionsThis study reveals a unique genetic cause of childhood glaucoma, and expands the phenotypic spectrum of CPAMD8-associated ocular disease.

scholarly journals CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

2020 ◽  
Vol 139 (10) ◽  
pp. 1209-1231 ◽  
Author(s):  
Juan-Manuel Bonet-Fernández ◽  
José-Daniel Aroca-Aguilar ◽  
Marta Corton ◽  
Ana-Isabel Ramírez ◽  
Susana Alexandre-Moreno ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Anterior Segment ◽  
Congenital Glaucoma ◽  
Loss Of Function ◽  
Anterior Segment Dysgenesis

scholarly journals Primary cilia deficiency in neural crest cells causes Anterior Segment Dysgenesis

2019 ◽  
Author(s):  
Céline Portal ◽  
Peter Lwigale ◽  
Panteleimon Rompolas ◽  
Carlo Iomini
Keyword(s):  
Neural Crest ◽  
Primary Cilium ◽  
Primary Cilia ◽  
Anterior Segment ◽  
Corneal Stroma ◽  
Neural Crest Cells ◽  
Corneal Neovascularization ◽  
Congenital Glaucoma ◽  
Anterior Segment Dysgenesis ◽  
Hh Signaling

ABSTRACTDuring eye embryogenesis, neural crest cells (NCC) of the periocular mesenchyme (POM) migrate to the anterior segment (AS) of the eye and then differentiate into the corneal stroma and endothelium, ciliary body, iris stroma, and the trabecular meshwork. Defective development of these structures leads to anterior segment dysgenesis (ASD) that in 50% of the cases leads to glaucoma, a leading cause of blindness. Here, we show that the primary cilium is indispensable for normal AS development and that its ablation in NCC induces ASD phenotypes including; small and thin cornea, impaired stromal keratocyte organization, abnormal iridocorneal angle with reduced anterior chamber and corneal neovascularization. These defects are similar to those described in patients with AS conditions such as Axenfeld-Rieger syndrome and Peter’s anomaly. Mechanistically, disruption of the primary cilium in the NCC resulted in reduced hedgehog (Hh) signaling in the POM, canonically activated by the Indian Hedgehog ligand expressed by endothelial cells of the choroid. This caused decreased cell proliferation in a subpopulation of POM cells surrounding the retinal pigmented epithelium. Moreover, primary cilium ablation in NCC also led to a decreased expression of Foxc1 and Pitx2, two transcription factors identified as major ASD causative genes. These findings suggest that primary cilia are indispensable for NCC to form normal AS structures via Hh signaling. Defects in primary cilia could, therefore, contribute to the pathogenesis of ASD, and to their complications such as congenital glaucoma.

Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis

2004 ◽  
Vol 25 (4) ◽  
pp. 277-283 ◽  
Author(s):  
S.M. Quinn ◽  
G.C.M. Black ◽  
S. Biswas ◽  
J. Clayton-Smith ◽  
I.C. Lloyd
Keyword(s):  
Autosomal Dominant ◽  
Anterior Segment ◽  
Anterior Segment Dysgenesis

Corneal Coloboma, Aphakia and Retinal Neovascularization with Anterior Segment Dysgenesis (Peters’ Anomaly)

1996 ◽  
Vol 210 (6) ◽  
pp. 361-366 ◽  
Author(s):  
Charlise A. Gunderson ◽  
Robert Stone ◽  
Robert Peiffer ◽  
Sharon Freedman
Keyword(s):  
Anterior Segment ◽  
Retinal Neovascularization ◽  
Anterior Segment Dysgenesis ◽  
Peters Anomaly

scholarly journals Hand-held optical coherence tomography imaging in children with anterior segment dysgenesis

2016 ◽  
Vol 95 (5) ◽  
pp. 537-541 ◽  
Author(s):  
Anastasia V. Pilat ◽  
Viral Sheth ◽  
Ravi Purohit ◽  
Frank A. Proudlock ◽  
Samira Anwar ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Anterior Segment ◽  
Optical Coherence ◽  
Tomography Imaging ◽  
Anterior Segment Dysgenesis ◽  
Optical Coherence Tomography Imaging
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