Results 11 to 20 of about 2,635 (188)

Cataract Surgery with Foldable Single Piece IOLs in Congenital Cataract-Microcornea Syndrome

open access: yesSiriraj Medical Journal, 2017
Objective: To present the visual outcomes and intraocular lens (IOLs) stability after cataract surgery with foldable single piece IOLs in a patient with congenital cataract-microcornea syndrome (CCMC).
Niphon Chirapapaisan   +3 more
doaj   +4 more sources

Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report

open access: yesBMC Ophthalmology, 2023
Background Best vitelliform macular dystrophy (BVMD), caused by pathogenic variants of the BEST1 gene, has not been reported in association with cataracts and ocular malformations.
Jie Shi   +4 more
doaj   +2 more sources

Microcornea, posterior megalolenticonus, persistent fetal vasculature, chorioretinal coloboma (MPPC) syndrome: Case series post vitrectomy

open access: yesAmerican Journal of Ophthalmology Case Reports, 2019
Purpose: MPPC syndrome has been described as a syndrome that presents with chorioretinal coloboma, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma. The purpose of our study is to report three patients who present with
Lindsay D. Rothfield   +6 more
doaj   +2 more sources

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

open access: yesAm 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   +14 more
europepmc   +2 more sources

Descemet’s stripping and non-Descemet’s stripping automated endothelial keratoplasty for microcornea using 6.0 mm donor grafts

open access: yesClinical Ophthalmology, 2013
Hideaki Yokogawa,1 Akira Kobayashi,1 Natsuko Yamazaki,1 Yoshiki Ueta,2 Yoshihiro Hashimoto,2 Naoko Tachi,2 Kazuhisa Sugiyama11Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa, 2Department of Ophthalmology ...
Yokogawa H   +6 more
doaj   +1 more source

An unusual pedigree with microcornea-cataract syndrome [PDF]

open access: yesJournal of Medical Genetics, 1995
A pedigree with 14 patients affected with microcornea-cataract (MC) syndrome is described. MC syndrome is very rare and this pedigree is probably the sixth to be reported. Transmission is most likely autosomal dominant, but the unusual feature of the present family is the fact that the proportion of affected members is so high that one is tempted to ...
E, Stefaniak   +3 more
openaire   +2 more sources

Corneal thickness in uveal coloboma with microcornea [PDF]

open access: yesEye, 2017
PurposeTo evaluate the relationship between central corneal thickness (CCT) and horizontal corneal diameter (HCD) in eyes with uveal coloboma and microcornea.Patients and methodsAll adult patients with uveal coloboma having microcornea in at least one eye and seen between May 2014 and July 2016 at the cataract clinic of our tertiary eye care center ...
A Mohamed   +3 more
openaire   +2 more sources

Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome

open access: yesBMC Ophthalmology, 2022
Background Congenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.
Zhi-Bo Lin   +6 more
doaj   +1 more source

Open-angle glaucoma in a case of cornea plana with unilateral microcornea: A cloud on the horizon

open access: yesIndian Journal of Ophthalmology. Case Reports, 2021
Cornea plana is a rare congenital condition, usually occurring bilaterally, characterized by flat cornea and low refractive power. Glaucoma due to angle closure is a more common association owing to the shallow anterior chamber.
Meena Menon   +3 more
doaj   +1 more source

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