• <em>Closing the Gap</em>: Mechanisms of Epithelial Fusion During Optic Fissure Closure
• <em>De novo</em> frameshift mutation in <em>YAP1</em> associated with bilateral uveal coloboma and microphthalmia
• <em>PAX2</em> Mutation-Related Oligomeganephronia in a Young Adult Patient
• <em>PAX2</em> variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
• A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
• A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous <em>SIX6</em> Variant
• A case report of retinal dystrophy in patients with PACS1 syndrome
• A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation
• A hybrid coloboma and optic disc pit associated with macular retinoschisis
• A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma
• A new mutation in the PAX2 gene in a Papillorenal Syndrome patient
• A rare case of unilateral Axenfeld-Rieger anomaly associated with optic disc coloboma: A multimodal imaging canvas
• Abnormalities of the contralateral eye in unilateral congenital anophthalmic or blind microphthalmic patients
• An eye behind an eye: A rare association of bilateral optic disc coloboma with retrobulbar cyst
• An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome
• Aniridic Fibrosis Syndrome
• AUTOLOGOUS NEUROSENSORY RETINAL TRANSPLANT TO TREAT REFRACTORY SEROUS RETINAL DETACHMENT SECONDARY TO OPTIC DISK COLOBOMA
• Bilateral Morning Glory Anomaly With Optic Nerve Multiple Cysts
• Bilateral optic nerve aplasia with corpus callosum hypogenesis in an otherwise healthy child: Report of a rare case
• Build Your Own Eye: A Method for Teaching Ocular Anatomy and Pathophysiology
• CHARGE syndrome without colobomas: Ophthalmic findings
• Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
• Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome
• Combined Transcranial-supraorbital and Transconjunctival Approach for Optic Nerve Coloboma with Ophthalmic Dysplasia Associated with Rheumatoid Arthritis
• Confounder for Optic Disc Evaluation in Glaucoma
• Congenital abnormalities of the optic disc
• Congenital primary aphakia
• Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)
• Detection of <em>De Novo PAX2</em> Variants and Phenotypes in Chinese Population: A Single-Center Study
• Double optic disc: True duplication or coloboma?
• Embryology, Eye Malformations
• Embryology, Optic Fissure
• Extension of TORCH spectrum in ophthalmology: congenital Zika, case report
• Eyelid Coloboma
• First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the <em>ZEB2</em> Gene Observed in Mowat-Wilson Syndrome
• Gillespie syndrome: An atypical form and review of the literature
• Glaucomatous optic nerve damage in the contralateral eye of a patient with peripapillary retinoschisis: a case report
• Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
• Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species
• In Vivo Analysis of Optic Fissure Fusion in Zebrafish: Pioneer Cells, Basal Lamina, Hyaloid Vessels, and How Fissure Fusion is Affected by BMP
• Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma
• Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation
• Iridochorioretinal coloboma associated with buried optic nerve drusen: a case report
• Iridofundal Coloboma Associated with Vitreous Haemorrhage and an Intraocular Mass: A Case Report
• Isolated circumpapillary coloboma with normal optic disc: a rare presentation
• LASER PHOTOCOAGULATION FOR THE TREATMENT OF OPTIC NERVE HEAD PIT-RELATED MACULOPATHY IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA
• Loss of zebrafish dzip1 results in inappropriate recruitment of periocular mesenchyme to the optic fissure and ocular coloboma
• Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408
• Minor dysmorphic features in a patient with papillorenal syndrome: A Case Report
• Morphogenesis and axis specification occur in parallel during optic cup and optic fissure formation, differentially modulated by BMP and Wnt
• Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases
• Multiple roles for Pax2 in the embryonic mouse eye
• Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice
• Neglected Congenital Glaucoma With Lens Coloboma
• Neuroimaging in Children with Ophthalmological Complaints: A Review
• Novel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography
• Ocular coloboma combined with cleft lip and palate: a case report
• Ocular coloboma-a comprehensive review for the clinician
• Ocular coloboma: Genetic variants reveal a dynamic model of eye development
• Ocular features in Aicardi syndrome: A case report
• Ocular features of Townes-Brocks syndrome
• Ocular manifestations in a family with brachio-oculo-facial syndrome
• Ocular manifestations in Gorlin-Goltz syndrome
• Ocular phenotype in a patient with <em>PAX2</em> gene mutation-associated papillorenal syndrome
• Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis
• Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report
• Optic disc coloboma associated with macular retinoschisis: A case report
• Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity
• Optic disc coloboma: Glaucoma imitator
• Optic disc pit combined with interpapillo-macular ganglion cells hypoplasia
• Optic disc pit with multiquadrant peripapillary retinoschisis and choroidal coloboma
• OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES
• Optic Nerve Aplasia
• Optic Nerve Coloboma
• Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
• Optic nerve colobomas associated with unilateral focal serous retinal detachment in a dog - In-vivo imaging and outcome following laser retinopexy
• Papillorenal Syndrome With Macular Retinoschisis and Subretinal Fluid
• Peripheral Retinal Nonperfusion in Pediatric Patients With Morning Glory Syndrome
• Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
• Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology
• Progressive Vision Loss in an Adult With Congenital Optic Nerve Coloboma, Hydrocephalus, and Basal Encephalocele
• Pseudoduplication of the optic disc initially resembling a bifurcated optic nerve in a strabismus child: a case report
• Pseudoretinoblastoma: Distribution based on gender, age, and laterality
• Radial peripapillary capillary network in congenital cavitary optic disk anomalies
• Recurrent Closed Funnel Retinal Detachment Associated With Optic Nerve Coloboma
• Renal Coloboma Syndrome-An Autosomal Dominant Genetic Disorder
• Retinochoroidal coloboma with optic nerve involvement in CHARGE syndrome
• Review of evidence for environmental causes of uveal coloboma
• Risk of Retinal Detachment in Children with Ocular Coloboma
• Scleral Cyst Associated with Anomalous Tilted Configuration of the Optic Nerve Head: A Case Report
• Secondary intrachoroidal cavitation in a case of iridofundal coloboma
• Sensitivity and specificity of the red reflex in Costa Rican newborns
• Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases
• Simultaneous Requirements for <em>Hes1</em> in Retinal Neurogenesis and Optic Cup-Stalk Boundary Maintenance
• Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia
• Survey of ocular abnormalities in draft horses
• The "Keyhole" Pupil: Clinical Significance of Ocular Coloboma
• Thin-section 3D Steady-State MRI in Optic Nerve Coloboma
• Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia
• Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure