Results 11 to 20 of about 1,973 (157)

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

Clinical Case Reports
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.
Sarah A. M. Lucas, Elena Franco, Hannah L. Scanga, Nathan L. Clark, Ken K. Nischal   +4 more
doaj   +4 more sources

Eye hydrodynamics indicators in children with congenital cataract, aphakia and pseudophakia

Российский офтальмологический журнал, 2021
Purpose. To determine the specificity of functional and tonographic parameters of the eyeball in children with cataract, aphakia and pseudophakia. Material and methods.
L. S. Khamraeva, L. Yu. Bobokha, L. A. Katargina   +2 more
doaj   +3 more sources

Rare association of aniridia with congenital aphakia and secondary glaucoma. [PDF]

Saudi J Ophthalmol, 2021
Congenital aniridia is a rare ocular disorder characterized by iris malformation. We present a 3-year-old boy with bilateral anterior-segment dysgenesis, congenital aniridia, congenital aphakia, secondary glaucoma, limbal stem cell deficiency, and band keratopathy. As the intraocular pressure was uncontrolled with antiglaucoma
Alharbi S, Albishri A, Owaidhah O.
europepmc   +3 more sources

Keratoplasty in congenital primary aphakia

Indian Journal of Ophthalmology, 2018
Muralidhar Ramappa, Sunita Chaurasia, Subhadra Jalali   +2 more
doaj   +3 more sources

Clinical Application of the Modified Scleral Tunnel Intraocular Lens Ciliary Sulcus Suture-Fixation Technique. [PDF]

J Ophthalmol
Purpose To evaluate the visual outcomes, intraocular lens (IOL) positional stability, and impact on the ocular surface following a novel modified scleral tunnel IOL ciliary sulcus suture‐fixation technique in eyes without adequate capsular support. Design A prospective single‐arm cohort study.
Li B, Liu Y, Long X, Qi H.
europepmc   +2 more sources

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management [PDF]

Vet Ophthalmol
ABSTRACT A 15‐week‐old Australian Labradoodle puppy was presented to The University of Queensland Small Animal Hospital for bilateral eyelid agenesis/coloboma and associated ocular complications. Enucleation of the left globe and repair of the right eyelid via a lip‐to‐lid transmucosal flap was performed. Given the subsequent development of prolapse of
Ng C, Ervedosa T, Soler J, Climans M, Gonzalez‐Astudillo V.   +4 more
europepmc   +2 more sources

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes. [PDF]

Am J Med Genet A
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Haanpää MK, Haldeman-Englert CR, Hietala M, Tanverdi MS, Koty PP, Brightman D, Dosunmu E, Tibrewal S, Kaur S, Kaur A, Verma RK, de Alba Campomanes AG, Utz V, Slavotinek AM, Curry C.   +14 more
europepmc   +2 more sources

Secondary congenital aphakia. [PDF]

Rom J Ophthalmol, 2016
AbstractWe present the clinical, paraclinical and therapeutic features in a patient with secondary congenital aphakia.A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the
Ionescu C, Dascalescu D, Cristea M, Schmitzer S, Cioboata M, Iancu R, Corbu C.   +6 more
europepmc   +2 more sources

Incidence of postoperative retinal detachment and bacterial endophthalmitis in the Swedish national paediatric cataract register and associated risk factors. [PDF]

Acta Ophthalmol
Abstract Purpose To investigate the incidence and risk factors of retinal detachment (RD) and bacterial endophthalmitis in a cohort of children who underwent cataract surgery before the age of eight. Methods Data was retrieved from the Swedish national paediatric cataract register.
Karatepe Hashas AS, Linnarsson Wiklund A, Gyllén J, Haargaard B, Magnusson G, Nyström A, Tornqvist K, Trocmé E, Kjellström U.   +8 more
europepmc   +2 more sources

A Pitx3-deficient developmental mouse model for fine motor, olfactory, and gastrointestinal symptoms of Parkinson's disease

Neurobiology of Disease, 2022
Parkinson's disease (PD) is characterized by the selective death of substantia nigra pars compacta (SNpc) dopaminergic neurons and includes both motor and non-motor symptoms.
Bin Song, Jacob W. Feldmann, Shibo Cao, Melissa Feitosa, Youngbin Kong, Woori Kim, Altana Schweitzer, Pierre Leblanc, Jeffrey S. Schweitzer, Kwang-Soo Kim   +9 more
doaj   +1 more source