Disease: Coloboma of iris
- <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
- "To Fulfill two needs with one deed": Iris fixation of intraocular lens using four-throw pupilloplasty
- 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
- A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous <em>SIX6</em> Variant
- A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant
- A case report of retinal dystrophy in patients with PACS1 syndrome
- A Chinese family with cat eye syndrome and abnormality of eye movement: First case report
- A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre
- A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion
- A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)
- A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia
- A novel pupilloplasty in crescent-shaped suturing pattern for coloboma and traumatic iris defects
- An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome
- An Unusual Presentation of Novel Missense Variant in <em>PAX6</em> Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)
- Aniridic Fibrosis Syndrome
- Aniridic Fibrosis Syndrome
- Atypical superior iris and chorioretinal coloboma
- Atypical superonasal iris, lens and retino-choroidal coloboma
- Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report
- Bilateral atypical fundal coloboma with macular drag and abnormal vasculogenesis
- Bilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up
- Bilateral Iris Coloboma in an 11-Year-Old Child with Low Vision and High Intraocular Pressure: A Rare Case Report and Review of Literature
- Bilateral optic disc pit coexistent with coloboma and maculopathy
- Build Your Own Eye: A Method for Teaching Ocular Anatomy and Pathophysiology
- Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
- Cat-Eye Syndrome: A Report of Two Cases and Literature Review
- Clinical and Demographic Profile of Uveal Coloboma: A Hospital-Based Study of 14,371 Eyes of 9557 Indian Patients
- Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13
- Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism
- Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome
- Clinical Spectrum and Long-Term Anatomical and Functional Outcomes of Pars Plana Vitrectomy in Retinal Detachments Associated With Choroidal Coloboma
- Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis
- Coloboma of the retina, choroid and iris co-existing with cardiac & Skeletal anomalies in a male Nigerian: A case of noonan syndrome
- Coloboma of the retina, choroid and iris co-existing with cardiac & Skeletal anomalies in a male Nigerian: A case of noonan syndrome
- Comment on: Congenital iris coloboma repair with excision of colobomatous sphincter muscle
- Comparison of cosmesis, mydriasis, fundus visibility, and anterior chamber depth following single-pass four-throw pupilloplasty in congenital and traumatic iris defects
- Conforming to the anatomy and not the standard: A technique of eccentric capsulorrhexis and intraocular lens haptic amputation for eyes with iris coloboma
- Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
- Cosmetic iris implants - double edge sword
- Couching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique
- Dandy-Walker Variant Associated with Bilateral Congenital Cataract
- De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia
- Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses
- Double temporal retinochoroidal coloboma with posterior embyotoxon and persistent pupillary membrane: a case report
- DYRK1A retinopathy
- Embryology, Optic Fissure
- Embryology, Optic Fissure
- EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia
- Evaluation of Posterior Ocular Structures in Patients with Isolated Iris Coloboma
- Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature
- Eyelid Coloboma
- Eyelid Coloboma
- Findings of ocular examinations in healthy full-term newborns
- First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the <em>ZEB2</em> Gene Observed in Mowat-Wilson Syndrome
- FLACS (Femtosecond-Laser-Assisted Cataract Surgery) combined with pupiloplasty in iris-lens coloboma
- Fundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies
- Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency
- Gillespie syndrome: An atypical form and review of the literature
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
- Heterochromia
- Heterochromia
- Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing
- Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic
- Kindler Syndrome Presenting as Colitis in an Infant
- La Bella Simonetta: Atypical Iris Coloboma Portrayed by Sandro Botticelli
- Lens Coloboma: A Rare Association of Congenital Rubella Syndrome
- Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
- Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination
- Megalocornea
- Megalocornea
- Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient
- MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma
- MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma
- Missense mutation in the <em>PAX6</em> gene can cause a complex mild variable phenotype predominated by concomitant strabismus
- Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
- Mosaic cat eye syndrome in a child with unilateral iris coloboma
- Neonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association
- Non-nasal, atypical retinochoroidal coloboma in pediatric patients: Case series and review
- Novel heterozygous variants in <em>PXDN</em> cause different anterior segment dysgenesis phenotypes in monozygotic twins
- Ocular abnormalities in Polish Hunting Dogs
- Ocular Coloboma With Choroidal Neovascular Membrane: A Case Report
- Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis
- On the question of the lens coloboma
- Ophthalmic manifestations of proboscis lateralis
- Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report
- Optic Nerve Aplasia
- Optic Nerve Coloboma
- Optic Nerve Coloboma
- Phenotypic and cytogenetic variability of patau syndrome in Morocco
- Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review
- Primary Congenital Glaucoma
- Primary Congenital Glaucoma
- Pupil reconstruction with an artificial iris
- Reply: Congenital iris coloboma repair with excision of colobomatous sphincter muscle
- Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family
- Review of evidence for environmental causes of uveal coloboma
- Scleral sutured toric intraocular lens with pars plana vitrectomy for the correction of corneal astigmatism without capsular support
- SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis
- Variable phenotype of Knobloch syndrome due to biallelic <em>COL18A1</em> mutations in children