An update on the genetics of ocular coloboma
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-02019-3
Abstract: Ocular coloboma is an uncommon, but often severe, sight-threatening condition that can be identified from birth. This congenital anomaly is thought to be caused by maldevelopment of optic fissure closure during early eye morphogenesis. It… read more here.
Keywords: genetics ocular; medicine; genetics; coloboma ... See more keywords
Coloboma of the Optic Disc and Retina
Sign Up to like & getrecommendations! Published in 2017 at "Journal of General Internal Medicine"
DOI: 10.1007/s11606-017-4052-8
Abstract: A 20-year-old man without significant past medical history presented for routine eye examination. He had recently noticed difficulty with distance vision and was found to have mild symmetric myopia. Best-corrected visual acuity was 20/20 in… read more here.
Keywords: coloboma optic; coloboma; optic disc; eye ... See more keywords
Association of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2016.10.010
Abstract: PURPOSE To describe the characteristics of pediatric choroidal neovascular membranes (CNVs) associated with retinochoroidal and optic nerve coloboma using optical coherence tomography (OCT) and their response to treatment. DESIGN Retrospective case series. METHODS Retrospective review… read more here.
Keywords: pediatric choroidal; retinochoroidal; coloboma; optic nerve ... See more keywords
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
Sign Up to like & getrecommendations! Published in 2020 at "Experimental eye research"
DOI: 10.1016/j.exer.2020.107940
Abstract: Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic… read more here.
Keywords: genetics syndromic; coach; genetics; coloboma ... See more keywords
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2144905
Abstract: ABSTRACT Background Anophthalmia, microphthalmia and coloboma are a genetically heterogenous spectrum of developmental eye disorders. Recently, variants in the Wnt-pathway gene Frizzled Class Receptor 5 (FZD5) have been identified in individuals with coloboma and rarely… read more here.
Keywords: individuals heterozygous; variants wnt; pathway gene; fzd5 variants ... See more keywords
Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa228
Abstract: Uveal coloboma represents one of the most common congenital ocular malformations accounting for up to 10% of childhood blindness (1~ in 5,000 live birth). Coloboma originates from defective fusion of the optic fissure (OF), a… read more here.
Keywords: closure; optic fissure; coloboma; fissure ... See more keywords
Outcomes of manual small incision cataract surgery and phacoemulsification in eyes with chorioretinal coloboma.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of cataract and refractive surgery"
DOI: 10.1097/j.jcrs.0000000000000586
Abstract: PURPOSE To evaluate outcomes of manual small-incision cataract surgery (MSICS) and phacoemulsification in eyes with chorioretinal coloboma. SETTING Tertiary eye center, South India. DESIGN Retrospective study. METHODS Electronic medical records of 71 patients with chorioretinal… read more here.
Keywords: coloboma; phacoemulsification; cataract surgery; surgery ... See more keywords
Novel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography.
Sign Up to like & getrecommendations! Published in 2022 at "Veterinary ophthalmology"
DOI: 10.1111/vop.12970
Abstract: PURPOSE The purpose was to describe the in vivo microanatomy of typical and atypical chorioretinal and juxtapapillary colobomas in the dog. METHODS Three cross-breed dogs were found to be affected with colobomas. Two of the… read more here.
Keywords: colobomas; optical coherence; atypical coloboma; juxtapapillary colobomas ... See more keywords
Discerning the optic nerve and retinochoroidal pathology using B-scan ultrasound in cases with anterior segment opacity
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-221549
Abstract: Case 1: A posterior segment B-scan ultrasonography in a patient with typical iris coloboma and total cataract, showed well-defined excavated area in the inferior part just below the optic disc (red arrow) with the absence… read more here.
Keywords: segment; coloboma; optic nerve; pathology ... See more keywords
Atypical and extensive combined irido-retinochoroidal coloboma with microcornea
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DOI: 10.1136/bcr-2021-245848
Abstract: © BMJ Publishing Group Limited 2022. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A preteenage girl presented with vision in her right eye reduced to counting fingers. Examination of the right… read more here.
Keywords: microcornea; eye; coloboma; right eye ... See more keywords
Combined choroidal vitiligo and retinochoroidal coloboma
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DOI: 10.1136/bcr-2022-253854
Abstract: © BMJ Publishing Group Limited 2023. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A man in his 40s was evaluated for occasional floaters in both eyes (OU). He had no history… read more here.
Keywords: choroidal vitiligo; coloboma; vitiligo; retinochoroidal coloboma ... See more keywords