• 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 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 TECHNIQUE WITH AUTOLOGOUS FIBRIN FOR THE TREATMENT OF PERSISTENT OPTIC PIT MACULOPATHY
• A rare case of unilateral Axenfeld-Rieger anomaly associated with optic disc coloboma: A multimodal imaging canvas
• Abnormal traction of the vitreous detected by swept-source optical coherence tomography is related to the maculopathy associated with optic disc pits
• 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
• AUTOLOGOUS NEUROSENSORY RETINAL TRANSPLANT TO TREAT REFRACTORY SEROUS RETINAL DETACHMENT SECONDARY TO OPTIC DISK COLOBOMA
• Bilateral macular colobomata: Temporal dragging of optic disc
• Bilateral optic disc coloboma
• Bilateral optic disc pathologies as an accompanying feature of comitant strabismus in children
• Bilateral optic disc pit coexistent with coloboma and maculopathy
• Bilateral optic nerve aplasia with corpus callosum hypogenesis in an otherwise healthy child: Report of a rare case
• Bilateral optic nerve aplasia: a rare isolated central nervous system anomaly
• Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome
• CHARGE syndrome with oculomotor nerve palsy
• Clinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas
• Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report
• Coloboma of the Optic Disc and Retina
• Congenital abnormalities of the optic disc
• Congenital anomalies of the optic disc: In the differential diagnosis of congenital glaucoma
• Congenital anomalies of the optic disc: insights from optical coherence tomography imaging
• Congenital optic disc anomalies--own observations
• Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
• Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses
• Double Optic Disc Pit With Glial Plugs Imaged by Wide-Field Optical Coherence Tomography
• Double optic disc: True duplication or coloboma?
• Evaluation of congenital excavated optic disc anomalies with spectral-domain and swept-source optical coherence tomography
• Eye morphogenesis driven by epithelial flow into the optic cup facilitated by modulation of bone morphogenetic protein
• First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis?
• Genes and pathways in optic fissure closure
• Glaucomatous optic nerve damage in the contralateral eye of a patient with peripapillary retinoschisis: a case report
• Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly
• In Vivo Analysis of Optic Fissure Fusion in Zebrafish: Pioneer Cells, Basal Lamina, Hyaloid Vessels, and How Fissure Fusion is Affected by BMP
• Intercalary membrane as the inner wall overlying optic and chorio-retinal colobomas. Deep penetration Swept Source-OCT study
• Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma
• 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
• Maculopathy with optic nerve pits : Morphological criteria in SD-OCT
• Metalloproteinase Adamts16 Is Required for Proper Closure of the Optic Fissure
• Morphogenesis and axis specification occur in parallel during optic cup and optic fissure formation, differentially modulated by BMP and Wnt
• Multi-modality imaging findings of huge intrachoroidal cavitation and myopic peripapillary sinkhole
• Multiple roles for Pax2 in the embryonic mouse eye
• Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFbeta signaling
• Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling
• Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice
• Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome
• Ocular coloboma combined with cleft lip and palate: a case report
• Ocular coloboma-a comprehensive review for the clinician
• Ocular features in Aicardi syndrome: A case report
• Ocular manifestations in a family with brachio-oculo-facial syndrome
• Ocular phenotype in a patient with <em>PAX2</em> gene mutation-associated papillorenal syndrome
• Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair
• Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia
• Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity
• Optic disc coloboma in two nigerian siblings: Case report and review of literature
• Optic disc coloboma with pit treated as glaucoma: diagnostic utility of ultrasound and swept source optical coherence tomography
• Optic disc coloboma: Glaucoma imitator
• Optic Disc Pit Associated With Choroidal Coloboma: Case Report And Short Review
• Optic disc pit combined with interpapillo-macular ganglion cells hypoplasia
• Optic disc pit with multiquadrant peripapillary retinoschisis and choroidal coloboma
• Optic disc pit-associated maculopathy and iris-retinochoroidal-coloboma - a rare combination
• OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES
• Optic Nerve Head Diagnostics with Optical Coherence Tomography
• Parapapillary Optic Nerve Head Drusen in Leber Congenital Amaurosis
• Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies
• Patient with Morning Glory syndrome
• Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review
• Prevalence of the optic disc anomalies in the adult South Indian population
• Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology
• Prophylactic laser photocoagulation of fundal coloboma: does it really help?
• Pseudoduplication of the optic disc initially resembling a bifurcated optic nerve in a strabismus child: a case report
• Radial peripapillary capillary network in congenital cavitary optic disk anomalies
• Rare case of iridofundal coloboma with buried optic nerve head drusen in a paediatric patient
• Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
• Recurrent Closed Funnel Retinal Detachment Associated With Optic Nerve Coloboma
• Regional Gene Expression Profile Comparison Reveals the Unique Transcriptome of the Optic Fissure
• Renal Coloboma Syndrome-An Autosomal Dominant Genetic Disorder
• RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA
• RETINAL DETACHMENT ASSOCIATED WITH PERIPAPILLARY STAPHYLOMA IMAGED WITH SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY
• Role of heparan sulfate proteoglycans in optic disc and stalk morphogenesis
• Secondary intrachoroidal cavitation in a case of iridofundal coloboma
• SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP
• Severe congenital ocular coloboma
• Simultaneous Requirements for <em>Hes1</em> in Retinal Neurogenesis and Optic Cup-Stalk Boundary Maintenance
• Simultaneous Requirements for Hes1 in Retinal Neurogenesis and Optic Cup-Stalk Boundary Maintenance
• Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia
• Study of the Radial Peripapillary Capillary Network in Congenital Optic Disc Anomalies With Optical Coherence Tomography Angiography
• Surgical management of serous macular detachment associated with tilted disc syndrome
• Swept-source OCT imaging of an optic pit
• Systemic abnormalities in children with congenital optic disc excavations
• The cellular bases of choroid fissure formation and closure
• The Transcription Factor Foxg1 Promotes Optic Fissure Closure in the Mouse by Suppressing Wnt8b in the Nasal Optic Stalk
• Unusual coloboma of the optic disc?
• Uveal colobomas with pseudo-duplication of the optic disc in both eyes: imaging by ultra-widefield swept-source optical coherence tomography angiography: a case report