Results 61 to 70 of about 12,123 (207)

ABCB6 Mutations Cause Ocular Coloboma

, 2012
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity.
Shi, Yi, Wang, Lejin, Yang, Zhenglin, Li, Wei, Lin, Ying, Phillips, John D., Soltis, Kathleen A., Paw, Barry H., McBride, Paul F., Dubey, Sushil Kumar, Gong, Bo, Dong, Jiamei, Sundaresan, Periasamy, Wang, Lejing, Liu, Xiaqi, Liu, Xiaoqi, Dubey, Sushi Kumar, Zhen, Yuanli, Li, Jing, He, Fei, Jia, Yanlei, Li, Dean Y., Liang, Chen, Cooney, Jeffrey D., Lu, Fang, Namburi, Prasanthi, Du, Wei, Bu, Juan   +27 more
core   +1 more source

Anterior coloboma with macrophthalmos and cyst MR findings

, 2005
Coloboma is one of the congenital ocular malformations presenting important diagnostic and therapeutic problems, especially in infants. Coloboma can be associated with microphthalmia frequently and macrophtalmia rarely.
Aribal, E, Toker, E, Ogut, MS, Altun, E
core   +2 more sources

Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye

Advanced Biomedical Research, 2016
Chorioretinal coloboma is a congenital defect of the eye caused by improper closure of the embryonic fissure. Optic nerve head drusen (ONHD) are white calcareous deposits that are generally asymptomatic.
Ali Reza Dehghani, Leila Rezaei, Heshmatollah Ghanbari   +2 more
doaj   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma

, 2008
We report a rare case of retinal detachment with microphthalmos and choroidal coloboma. A 28-year-old man who had suffered from poor vision since early childhood was examined because of progressive deterioration of vision in his right eye. Examination of
陳慕師;何子昌;張慶忠;蔡紫薰;侯平康, CHEN, MUH-SHY;HO, TZYY-CHANG;CHANG, CHING-CHUNG;TSAI, TZU-HSUN;HOU, PING-KANG   +1 more
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Iris coloboma, apresentação do caso

, 2020
Introduction: the coloboma is a birth defect of the lower sector of the iris or a neckline in the pupil margin that gives the pupil a locking appearance.Case presentation: The case of a 53-year-old male patient with clinical diagnosis of iris coloboma in
Gutiérrez Núñez, Rafael, Mora Herrera, Marcia Esther, Rojas Guerra, Jesús Eligio, Arévalo Nueva., Lisset de la Caridad   +3 more
core  

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu, Guoqiang Li, Yimin He, Yiyao Chen, Lu‐lu Li, Niu Li, Shuyuan Li, Jian Wang   +7 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

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

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