Results 71 to 80 of about 2,635 (188)

White-to-white corneal diameter:normal values in healthy Iranian population obtained with the Orbscan II [PDF]

International Journal of Ophthalmology, 2014
AIM:To determine the normative values of white-to-white corneal diameter with Orbscan II Topography System and to compare right and left eyes data in the normal young population.Methods:A total of 1001 healthy participants aged 18-45y participated in ...
Hamid Gharaee, Mojtaba Abrishami, Masoud Shafiee, Asieh Ehsaei   +3 more
doaj   +1 more source

Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver‐Reported Co‐Produced Questionnaire

Brain and Behavior, Volume 15, Issue 5, May 2025.
KBG syndrome (KBGS) is one of the most common monogenic causes of ID alongside short stature, macrodontia, and other variable features. Phenotypes in childhood are well documented, but data are lacking about adulthood and how best to support individuals. This study provides essential data on the lived experience of KBGS in adulthood.
Karen J. Low, Moira Walker, Georgia Treneman‐Evans, Nuria C. Bramswig, Morten K. Herlin, Gaetan Lesca, Emanuela Scarano, Charlotte W. Ockeloen, Allan Bayat   +8 more
wiley   +1 more source

Trabeculectomy in a rare case of angle closure glaucoma in patient with cornea plana and microcornea with a new mutation

Indian Journal of Ophthalmology. Case Reports
Cornea plana is characterized by abnormally flattened corneal curvature, often associated with microcornea and shallow anterior chamber (AC) increasing the risk of glaucoma.
Pooja Bhomaj, Rutul Patel
doaj   +1 more source

A Case of Retinal Detachment in Colobomatous Macrophthalmos With Microcornea Syndrome [PDF]

Korean Journal of Ophthalmology, 2009
We report a rare case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. A 25-year-old female who had suffered from poor vision in her left eye since early childhood and high myopia in her right eye (-11 D) visited our clinic because of a sudden deterioration of vision. Examination of the anterior segment showed microcornea
Seung, Hyun Kyung, Kim, Ha Kyoung, Nam, Woo Ho   +2 more
openaire   +2 more sources

Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report

Clinical Case Reports, Volume 13, Issue 5, May 2025.
ABSTRACT Congenital aphakia is a rare eye condition in which the lens fails to form properly. It is typically caused by pathogenic variants within the FOXE3 or HCCS genes; however, it can also be associated with GJA8 pathogenic variants. GJA8 should be included in the genetic testing of patients with this condition.
Sarah A. M. Lucas, Elena Franco, Hannah L. Scanga, Nathan L. Clark, Ken K. Nischal   +4 more
wiley   +1 more source

A Novel De Novo Missense Variant in Netrin‐1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly

Clinical Genetics, Volume 107, Issue 3, Page 292-299, March 2025.
A novel heterozygous de novo NTN1 missense variant was identified in a patient with chorioretinal coloboma, sensorineural deafness and polydactyly, through screening of micropthalmia anophthalmia coloboma (MAC) patients in the Genomics England 100 000 Genomes Project dataset.
Maria Toms, Cara Heppell, Nicholas Owen, Samantha Malka, Mariya Moosajee, Genomics England Research Consortium   +5 more
wiley   +1 more source

Extreme microcornea in a child with cataract

Journal of Cataract & Refractive Surgery Online Case Reports
An 8-year-old boy with oculodentodigital dysplasia (ODDD) presented with light perception in both eyes (Figure 1 ...
Bruna V. Ventura, Scott R. Lambert, M. Edward Wilson, Marie-José Tassignon, Vaishali Vasavada, Ken K. Nischal, Natalie A. Afshari   +6 more
openaire   +1 more source

Comparing glaucoma risk in children receiving low‐dose and high‐dose glucocorticoid treatment after cataract surgery

Acta Ophthalmologica, Volume 103, Issue 1, Page 43-49, February 2025.
Abstract Purpose Treatment with glucocorticoids following paediatric cataract surgery is crucial to prevent inflammation, but may lead to secondary glaucoma, and hypothalamic–pituitary–adrenal axis suppression. We wish to compare glaucoma outcomes following high‐dose and low‐dose glucocorticoid treatment after paediatric cataract surgery.
Diana Chabané Schmidt, Torben Martinussen, Ameenat Lola Solebo, Dorte Ancher Larsen, Daniella Bach‐Holm, Line Kessel   +5 more
wiley   +1 more source

Utility of Ultrasound Biomicroscopy in Pachyphakia, Microcornea, and Angle Closure

Purpose: To describe the case of a young adult patient with a history of laser treatment for threshold retinopathy of prematurity, presenting with pachyphakia, microcornea, and acute angle-closure glaucoma.
Audina M. Berrocal, Astrid C. Werner, Caroline R. Baumal, Teresa Horan, Prashanth G. Iyer   +4 more
core   +1 more source

CRYBB1 mutation associated with congenital cataract and microcornea

, 2005
The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported. METHODS: Family history and clinical data were recorded.
Ferrini, W., Kaye, S., Chan, L.L.Y., Billingsley, G., Shafiq, A., Priston, M., Chandna, A., Mok, C., Willoughby, Colin, Heon, E.   +9 more
core   +2 more sources