Results 51 to 60 of about 10,524 (180)

Repair of Iris Defects

Delhi Journal of Ophthalmology, 2014
Purpose: To demonstrate three techniques of repair of iris defects in cases with iridodialysis, post surgical coloboma and post-traumatic mydriasis. Methods: Video-based description of repair of three cases of iris defects, highlighting the technique and
Tushar Agarwal, Tarun Arora
doaj   +1 more source

Dental Management of a 9‐Year‐Old Child With Suspected CHARGE Syndrome: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr, Ariana Golabbakhsh, Nayereh Ahmadi, Razie Jahadakbar, Nosrat Nourbakhsh   +4 more
wiley   +1 more source

Retinal detachments associated with choroidal colobomas

Taiwan Journal of Ophthalmology
To summarize the characteristics of the retinal detachments (RDs) that are associated with choroidal colobomas that occur in pediatric and adult patients.
Makoto Inoue
doaj   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Late-Onset Subretinal Silicone Oil Migration through Optic Disc Coloboma

Case Reports in Ophthalmology
Introduction: This report describes a case of late onset subretinal silicone oil migration in an eye with congenital optic disc coloboma and its treatment.
Or Shmueli, Tareq Jaouni
doaj   +1 more source

Ocular coloboma combined with cleft lip and palate: a case report

BMC Ophthalmology, 2020
Background Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal,
Yung Ju Yoo, Sang Beom Han, Hee Kyung Yang, Jeong-Min Hwang   +3 more
doaj   +1 more source

A rare occurrence of superior retinochoroidal coloboma: A case report

Indian Journal of Ophthalmology. Case Reports
Purpose: To brief a rare case of superior retinochoroidal coloboma and to analyze the possible embryogenic aspects involved in its provenance. Method: A case report.
Sayan Mukerjee, Sourabh Patwardhan, Nidhi Patwardhan   +2 more
doaj   +1 more source

Choroidal neovascularization associated with coloboma of the choroid: A series of three cases

Indian Journal of Ophthalmology, 2011
Choroidal neovascularization (CNV) is a rare complication associated with coloboma of the choroid. We describe three cases of coloboma choroid where there was loss of vision due to CNV development at the edge of the coloboma.
Bhende Muna, Suganeswari G, Gopal Lingam, Bhende Pramod, Gopal Lekha, Rao Chetan   +5 more
doaj  

Atypical superior iris and chorioretinal coloboma

Indian Journal of Ophthalmology, 2022
Shweta Parakh, Shrutanjoy Das, Shrey Maheshwari, Gaurav Luthra, Saurabh Luthra   +4 more
doaj   +1 more source