Maternal diet as a risk factor for primary congenital glaucoma and defects of the anterior segment of the eye in the National Birth Defects Prevention Study

2020 ◽  
Vol 112 (6) ◽  
pp. 503-514 ◽  
Author(s):  
Kristin J. Moore ◽  
Suzan L. Carmichael ◽  
Nina E. Forestieri ◽  
Tania A. Desrosiers ◽  
Robert E. Meyer ◽  
...  
Keyword(s):  
Risk Factor ◽  
Birth Defects ◽  
Maternal Diet ◽  
Anterior Segment ◽  
Congenital Glaucoma ◽  
Prevention Study ◽  
Primary Congenital Glaucoma

Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study

2019 ◽  
Author(s):  
Nina E. Forestieri ◽  
Tania A. Desrosiers ◽  
Sharon F. Freedman ◽  
Arthur S. Aylsworth ◽  
Kristin Voltzke ◽  
...  
Keyword(s):  
Risk Factors ◽  
Birth Defects ◽  
Congenital Glaucoma ◽  
Prevention Study ◽  
Primary Congenital Glaucoma

scholarly journals Assessment of the anterior segment of patients with primary congenital glaucoma using handheld optical coherence tomography

Eye ◽  
2019 ◽  
Vol 33 (8) ◽  
pp. 1232-1239 ◽  
Author(s):  
Anastasia V. Pilat ◽  
Frank A. Proudlock ◽  
Sonal Shah ◽  
Viral Sheth ◽  
Ravi Purohit ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Anterior Segment ◽  
Congenital Glaucoma ◽  
Optical Coherence ◽  
Primary Congenital Glaucoma

scholarly journals Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study

2017 ◽  
Vol 173 (11) ◽  
pp. 2873-2885 ◽  
Author(s):  
Kim M. Keppler-Noreuil ◽  
Kristin M. Conway ◽  
Dereck Shen ◽  
Anthony J. Rhoads ◽  
John C. Carey ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Risk Factor ◽  
Birth Defects ◽  
Risk Factor Analysis ◽  
Prevention Study

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.

scholarly journals Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997–2007

2014 ◽  
Vol 57 (5) ◽  
pp. 220-229 ◽  
Author(s):  
Vijaya Kancherla ◽  
Paul A. Romitti ◽  
Lixian Sun ◽  
John C. Carey ◽  
Trudy L. Burns ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Risk Factor ◽  
Birth Defects ◽  
Choanal Atresia ◽  
Risk Factor Analysis ◽  
Prevention Study

Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997–2011

2019 ◽  
Author(s):  
Marine Nalbandyan ◽  
Meredith M. Howley ◽  
Christopher M. Cunniff ◽  
Paul A. Romitti ◽  
Marilyn L. Browne ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Risk Factor ◽  
Birth Defects ◽  
Risk Factor Analysis ◽  
Prevention Study ◽  
Sacral Agenesis

scholarly journals Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 550 ◽  
Author(s):  
Samuel Morales-Cámara ◽  
Susana Alexandre-Moreno ◽  
Juan-Manuel Bonet-Fernández ◽  
Raquel Atienzar-Aroca ◽  
José-Daniel Aroca-Aguilar ◽  
...  
Keyword(s):  
Ganglion Cell ◽  
Retinal Ganglion Cell ◽  
Anterior Segment ◽  
Congenital Glaucoma ◽  
Ciliary Epithelium ◽  
Functional Evaluation ◽  
Sequencing Analysis ◽  
Retinal Ganglion ◽  
Primary Congenital Glaucoma

Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family identified two affected siblings who carried a low-frequency homozygous nonsense GUCA1C variant (c.52G > T/p.Glu18Ter/rs143174402). This gene encodes GCAP3, a member of the guanylate cyclase activating protein family, involved in phototransduction and with a potential role in intraocular pressure regulation. Segregation analysis supported the notion that the variant was coinherited with the disease in an autosomal recessive fashion. GCAP3 was detected immunohistochemically in the adult human ocular ciliary epithelium and retina. To evaluate the ocular effect of GUCA1C loss-of-function, a guca1c knockout zebrafish line was generated by CRISPR/Cas9 genome editing. Immunohistochemistry demonstrated the presence of GCAP3 in the non-pigmented ciliary epithelium and retina of adult wild-type fishes. Knockout animals presented up-regulation of the glial fibrillary acidic protein in Müller cells and evidence of retinal ganglion cell apoptosis, indicating the existence of gliosis and glaucoma-like retinal damage. In summary, our data provide evidence for the role of GUCA1C as a candidate gene in PCG and offer new insights into the function of this gene in the ocular anterior segment and the retina.

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