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Last Updated: 10/31/2025

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Found 332 publications

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

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

The Evaluation of Ocular Posterior Segment Findings in 5527 Term Infants Using Smartphone-Based Fundus Imaging.

The Evaluation of Ocular Posterior Segment Findings in 5527 Term Infants Using Smartphone-Based Fundus Imaging.

Journal: Journal of ophthalmology
Published: August 13, 2024

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.

Journal: Case reports in genetics
Published: July 29, 2024

Congenital right optic nerve colobomatous cyst associated with microphthalmos.

Congenital right optic nerve colobomatous cyst associated with microphthalmos.

Journal: Radiology case reports
Published: July 28, 2024

Optic disc coloboma - A hidden masquerader.

Optic disc coloboma - A hidden masquerader.

Journal: Arquivos brasileiros de oftalmologia
Published: April 02, 2024

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Journal: Pediatric nephrology (Berlin, Germany)
Published: December 22, 2023
Showing 1-12 of 332

Last Updated: 10/31/2025