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Last Updated: 01/07/2026

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Found 320 publications

Refractive Error Correction With Glasses in Congenital Ocular Fundus Anomalies: A Retrospective Series of 18 Children With Different Disease Entities Followed Up for More Than 10 Years.

Refractive Error Correction With Glasses in Congenital Ocular Fundus Anomalies: A Retrospective Series of 18 Children With Different Disease Entities Followed Up for More Than 10 Years.

Journal: Cureus
Published: October 07, 2025

Morning Glory Disc Anomaly With Ipsilateral Carotid Vasculopathy: MRI Characteristics and Clinical Implications.

Morning Glory Disc Anomaly With Ipsilateral Carotid Vasculopathy: MRI Characteristics and Clinical Implications.

Journal: Cureus
Published: October 06, 2025

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.

Journal: Ophthalmic genetics
Published: June 29, 2025

A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane.

A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane.

Journal: BMC ophthalmology
Published: May 24, 2025

Amniotic membrane placement without endotamponade for optic nerve coloboma with extensive serous retinal detachment in papillorenal syndrome: A case report.

Amniotic membrane placement without endotamponade for optic nerve coloboma with extensive serous retinal detachment in papillorenal syndrome: A case report.

Journal: American journal of ophthalmology case reports
Published: May 10, 2025

Hybrid cavitary disc anomaly - A case series and proposal of a novel classification system.

Hybrid cavitary disc anomaly - A case series and proposal of a novel classification system.

Journal: Indian journal of ophthalmology
Published: April 20, 2025

Intraorbital optic nerve coloboma: Neurosurgical considerations from two rare cases.

Intraorbital optic nerve coloboma: Neurosurgical considerations from two rare cases.

Journal: Surgical neurology international
Published: March 29, 2025

Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.

Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.

Journal: European journal of medical research
Published: February 18, 2025

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

Journal: Medicina (Kaunas, Lithuania)
Published: February 07, 2025

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.

Journal: BMJ case reports
Published: January 22, 2025

Myriad of congenital excavated optic disc anomalies in achondroplasia.

Myriad of congenital excavated optic disc anomalies in achondroplasia.

Journal: BMJ case reports
Published: November 21, 2024

Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoids.

Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoids.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: November 19, 2024
Showing 1-12 of 320

Last Updated: 01/07/2026