Chapter 14: Developmental Glaucomas with Associated Anomalies

Abboud Ibrahim, Fam Anthony, Almobayed Amr et al.

This study found pseudoexfoliation glaucoma (PXG) significantly increases the risk of central serous chorioretinopathy (CSCR) compared to primary open-angle glaucoma (POAG), suggesting shared posterior segment vascular susceptibility.

Rufai Sohaib R, Roche Dermot, Shenoy Riddhi et al.

This study found handheld and table-mounted OCT are feasible and comparable for monitoring optic nerves in children with craniosynostosis, enabling data pooling for enhanced care and research.

Yehezkeli Veronika, Greenbaum Eran, Belkin Avner et al.

The AssiAnchor device effectively stabilized subluxated lenses in pediatric Marfan syndrome, showing good long-term visual/refractive outcomes and IOL stability, offering a viable surgical option despite some complications like amblyopia.

Cohen Samuel A, Haque Md Enamul, Pershing Suzann et al.

American Indian/Alaska Native patients have a strikingly higher burden of pseudoexfoliation and pigmentary glaucoma, often diagnosed younger, warranting increased vigilance for these high-risk groups.

Bohnsack Brenda L, Williams Antionette L, Jacobson Adam et al.

This study found Axenfeld-Rieger Syndrome patients with glaucoma had worse vision and needed surgery. Zebrafish models confirmed FOXC1 gene variants cause ARS, offering insights into this complex condition.

Lee Sang Muk, Kwon Soonil, Lee Min Joung et al.

This study found distinct microRNA expression in pseudoexfoliation glaucoma versus pseudoexfoliation alone, with specific miRNAs correlating with glaucoma severity and clinical parameters, offering potential insights into disease mechanisms.

Zobor Ditta, Knézy Krisztina, Besztercei Barbara et al.

This study found PAX6-aniridia patients have delayed retinal signal timing and reduced ganglion cell function, even without overt glaucoma. Handheld ERG can monitor these retinal changes, highlighting glaucoma risk.

Seresirikachorn Kasem, Thiamthat Warakorn, Bitrian Elena et al.

This study found over half of ARS patients develop glaucoma, with diagnosis at birth and cardiac anomalies as risk factors. Glaucoma drainage devices showed the best qualified surgical success.

Romano Davide, Romano Vito, Daruich Alejandra et al.

European ANIRIDIA-NET created guidelines for congenital aniridia diagnosis, management, and care, offering a comprehensive resource to improve patient outcomes for this complex, rare ocular disorder.

Gunay Murat, Kurt Ibrahim Mert, Yilmaz Ugur et al.

SD-OCT revealed children with NF1 have significantly narrower iridocorneal angles and thicker irises than healthy children. This suggests a higher glaucoma risk due to altered angle anatomy.

Panigrahi Arnav, Sawant Nikhil, Malik Manzoor Ahmad et al.

This study found optic disc morphology in primary congenital glaucoma children is similar to healthy controls, despite axial elongation, suggesting these features aren't primary glaucoma indicators.

Wang Dan, Yang Yan-Yan, Chang Qing-Lin et al.

MRI revealed anomalous orbital structures causing congenital restrictive strabismus, often discrete bands from inferior rectus or connections between superior/medial rectus. Eyelid malposition may indicate AOS.

Kolovos Antonia, Qassim Ayub, Hassall Mark M et al.

Polygenic risk scores for glaucoma, IOP, and VCDR stratify glaucoma risk and severity in pseudoexfoliation patients, identifying those prone to earlier diagnosis and worse outcomes, aiding personalized management.

Kolipaka Gowri Pratinya, Molleti Deepthi, Krishnamurthy Rashmi et al.

This study of Phakomatosis pigmentovascularis found high rates of glaucoma (88% of eyes, mostly bilateral, 2/3 needing surgery) and systemic issues like epilepsy, highlighting the need for comprehensive, multisystem patient evaluation.

Chen Hui, Chen Wan, Zhou Fengqi et al.

This study classified 619 eyes with aPFV, finding location and severity impact outcomes. A proposed management algorithm aims for favorable results with fewer complications, improving visual acuity in 73.7%.

Faes Livia, Freund K Bailey

Rufai Sohaib R, Thomas Mervyn G, Marmoy Oliver R et al.

This study found children with craniosynostosis have distinct optic nerve head morphology, especially in FGFR1/2 syndromes, which could improve ophthalmological monitoring and surgical decisions.

Reis Linda M, Seese Sarah E, Costakos Deborah et al.

This review explored genetic causes of congenital anterior segment disorders, finding genetic diagnosis incomplete but identifying key genes like FOXC1 linked to diverse presentations, impacting understanding and treatment.

Topouzis Nikolaos, Kitayama Ken, Puran Allan et al.

This study found most glaucoma subtypes were linked to lower dementia risk, but pseudoexfoliative glaucoma increased vascular dementia risk in younger seniors, suggesting complex relationships needing more research.