Coloboma (Colobomas)

Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.

Also Known As:

Colobomas; Coloboma Of Iris, Choroid, And Retina; Coloboma, Ocular; Coloboma, Uveoretinal; Ocular Coloboma; Uveoretinal Coloboma; Colobomas, Ocular; Colobomas, Uveoretinal; Ocular Colobomas; Uveoretinal Colobomas

Networked: 478 relevant articles (14 outcomes, 27 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Retinal Detachment (Retinal Detachments)
2.	Microphthalmos
3.	Cataract (Cataracts)
4.	Refractive Errors (Refractive Error)
5.	Aphakia

Experts

1.	Gross, Jeffrey M: 5 articles (01/2019 - 07/2008)
2.	Hess, Ellen J: 5 articles (01/2010 - 04/2003)
3.	Brooks, Brian P: 4 articles (01/2022 - 01/2014)
4.	Kosaki, Kenjiro: 4 articles (01/2021 - 12/2005)
5.	Moosajee, Mariya: 4 articles (01/2021 - 12/2008)
6.	Lehmann, Ordan J: 4 articles (01/2018 - 05/2014)
7.	Slavotinek, Anne: 4 articles (01/2018 - 05/2010)
8.	Gleeson, Joseph G: 3 articles (01/2021 - 01/2004)
9.	Alur, Ramakrishna P: 3 articles (01/2020 - 01/2014)
10.	Chen, Shuyi: 3 articles (01/2018 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Coloboma:

1.	Silicone OilsIBA 01/01/2022 - ": MIVS with silicone oil tamponade provided an anatomical success rate of 90.5% in eyes with coloboma RD with a significant improvement in visual acuity. " 01/01/2022 - ": This was a retrospective, multicentric analysis of eyes having coloboma RD undergoing MIVS with silicone oil tamponade between March 2010 and July 2018. " 07/01/2010 - "In 1 patient (16%), subclinical retinal detachment that did not increase during the follow-up after silicone oil removal was detected just beyond the margin of the coloboma. " 07/01/1998 - "During surgery by using an operating microscope with high magnification and endoillumination, we searched for retinal break(s) located in the colobomatous area, looked into the condition of posterior hyaloid area, status of coloboma, treatment was given accordingly, and finally silicone oil tamponade was performed. " 07/01/1998 - "Complete vitrectomy with method to create chorioretinal adhesion around the coloboma and silicone oil tamponade provide an effective treatment for this complicated type of retinal detachment."
2.	Retinaldehyde (Retinal)IBA 01/01/2020 - "To study the retinal architecture and vitreoretinal interface at the edge of choroidal coloboma using swept-source OCT. " 12/01/2013 - "The aim of this study was to report the observations on the pattern of retinal BVs in eyes with fundus coloboma. " 11/01/1968 - "[Clinical and electroretinographic study of a case of coloboma of the optic nerve with absence of retinal vascularization]." 12/01/2023 - "Coloboma results from fusion failure between opposing ventral retinal epithelia, but there are major knowledge gaps in our understanding of this process at the molecular and cell behavioural levels. " 07/01/2023 - "OCT crossline scans demonstrated preservation of retinal thickness and morphological layering in the fundic colobomas leading to the conclusion that the colobomas were purely choroido-scleral. "
3.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 09/01/2016 - "In view of good treatment outcomes with no recurrence and a lesser number of injections, anti-VEGF monotherapy could be considered as treatment for coloboma-associated CNVM." 11/01/2021 - "In this article, we present a case of bilateral iris, disc, and retina coloboma that was managed with an anti-vascular endothelial growth factor (ranibizumab), and as a result, caused regression of the choroidal neovascular membranes and improved the patient's visual acuity. " 09/01/2016 - "This study aimed to report the outcomes of antivascular endothelial growth factor (anti-VEGF) monotherapy for choroidal neovascularization (CNVM) associated with retinochoroidal coloboma (RCC). " 01/01/2020 - "The patient is a 56-year-old pseudophakic man with a history of congenital iris coloboma, myopia, retinal tears, and a branch retinal vein occlusion with subsequent cystoid macular edema resistant to anti-VEGF medications but responsive to corticosteroids. "
4.	Dopamine (Intropin)FDA LinkGeneric 01/01/2000 - "Despite the ubiquitous role of SNAP-25 in synaptic transmission, and uniformly decreased expression in the mutants, coloboma mice show marked deficits in Ca2+-dependent dopamine release selectively in dorsal but not ventral striatum. " 11/20/1999 - "Transgenic rescue of SNAP-25 restores dopamine-modulated synaptic transmission in the coloboma mutant." 01/01/2010 - "Targeted deletion of the D2, but not the D3 or the D4, dopamine receptor in coloboma mice eliminated the hyperactivity; depleting D2 dopamine receptors also restored the excess dopamine overflow that may drive the hyperactivity to normal concentrations. " 04/01/2007 - "Amphetamine treatment reduced locomotor activity in coloboma mice, but induced a robust increase in dopamine overflow suggesting that abnormal regulation of dopamine efflux does not account for the behavioral effect. " 11/30/2001 - "Previous research has determined that there is an increase in the concentration of norepinephrine but a decrease in dopamine utilization in the striatum and nucleus accumbens of coloboma mice. "
5.	Ranibizumab (Lucentis)FDA Link 12/01/2009 - "Ranibizumab for coloboma-related choroidal neovascular membrane in a child." 01/20/2021 - "Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation." 12/01/2009 - "Herein we report the results of ranibizumab and laser photocoagulation for coloboma-related CNVM in a child." 11/01/2021 - "In this article, we present a case of bilateral iris, disc, and retina coloboma that was managed with an anti-vascular endothelial growth factor (ranibizumab), and as a result, caused regression of the choroidal neovascular membranes and improved the patient's visual acuity. "
6.	Dopamine Receptors (Dopamine Receptor)IBA 01/01/2010 - "Targeted deletion of the D2, but not the D3 or the D4, dopamine receptor in coloboma mice eliminated the hyperactivity; depleting D2 dopamine receptors also restored the excess dopamine overflow that may drive the hyperactivity to normal concentrations. " 01/01/2010 - "Here we use the hyperactive mouse mutant coloboma to identify D2-like dopamine receptor subtypes that mediate the hyperactivity and response to amphetamine; we have previously demonstrated that D1-like dopamine receptors are not involved. " 04/01/2007 - "However, the D2-like dopamine receptor antagonists haloperidol and raclopride, but not the D1-like dopamine receptor antagonist SCH23390, blocked the amphetamine-induced reduction in locomotor activity in coloboma mice, providing direct evidence that D2-like dopamine receptors mediate the effect of amphetamine in these mice. "
7.	Proteins (Proteins, Gene)FDA Link 01/01/2023 - "Inhibiting shh signaling by the protein inhibitor HPI-1 rescues coloboma, confirming our observation that coloboma in rerea mutants is indeed due to deregulation of shh signaling. " 01/01/2023 - "Whole exome sequencing revealed a homozygous frame shift variant in FAT1, predicted to truncate the FAT1 protein at the furthest position in the protein structure published to date in a patient with coloboma. " 06/02/2004 - "EEG analysis of Coloboma (Cm/+), an autosomal dominant mutant mouse lacking one copy of the gene for a synaptosomal-associated protein (SNAP25) that interacts with HVA channels, reveals abnormal spike-wave discharges (SWDs) in the behaving animal. " 04/01/2003 - "Coloboma mice exhibit spontaneous locomotor hyperactivity that is a result of a reduction in SNAP-25, a presynaptic protein that regulates exocytotic release. " 04/01/2001 - "The consequences of a reduction in the presynaptic protein, SNAP-25, were investigated to determine the neurochemical basis of the marked hyperlocomotor activity in coloboma (Cm/+) mice. "
8.	iridalIBA 05/01/2013 - "The purpose of this study was to describe the physiologic and morphometric changes in iridal tissue involved in ocular coloboma in FLS mice. " 11/01/2013 - "Complete iridal coloboma was present in 37% of eyes. " 05/01/2013 - "However, the same pathogenesis should result in iridal coloboma that has not been reported in this strain. " 01/01/2021 - "We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that is, c.625G > A p.(Glu209Lys). " 05/01/2013 - "Iridal coloboma induces dyscoria during miosis in FLS mice."
9.	Fluorescein (Funduscein)FDA LinkGeneric 10/01/1977 - "A fluorescein angiographic study of a case with coloboma." 03/01/2023 - "Multimodal imaging, including color photography, fluorescein angiography, and spectral-domain optical coherence tomography, was used to identify and demonstrate the location of the tract of fluid from the optic nerve head pit, isolated from the coloboma. " 01/01/2022 - "Records were reviewed for OCP stage, type of surgery, best-corrected visual acuity (BCVA), Schirmer I test, corneal fluorescein sodium staining, meibomian gland coloboma range, and ocular surface disease index (OSDI) scores. " 01/20/2021 - "Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. " 02/01/2011 - "Funduscopy and fluorescein angiography (FA) showed CNV in the superior extrafoveal region with chorioretinal coloboma reaching just inferior to the optic disc. "
10.	MorpholinosIBA 01/01/2019 - "We have identified netrin1a (ntn1a) as highly differentially expressed across optic fissure fusion, with a resultant ocular coloboma phenotype following morpholino antisense translation-blocking knockdown and downstream disruption of atoh7 expression. " 01/01/2014 - "We show that morpholino knockdown of aldh7a1 in zebrafish causes uveal coloboma and misregulation of nlz1, another known contributor to the coloboma phenotype, as well as skeletal abnormalities. " 01/13/2012 - "Morpholino knockdown of abcb6 in zebrafish produces a phenotype characteristic of coloboma and replicates the clinical phenotype observed in our index cases. " 01/01/2012 - "The loss of Otx activity through morpholino knockdown produced variable eye defects, ranging from delayed RPE pigmentation to severe coloboma, depending on the combination of Otx factors that were targeted. " 01/01/2017 - "Loss of function studies at the OV stage using morpholinos or a blocking antibody targeting the C3aR (anti-C3aR Ab), causes eye defects such as microphthalmia and defects in the ventral portion of the eye that result in coloboma. "

Therapies and Procedures

1.	Vitrectomy 01/01/2020 - "This was a retrospective, single center, interventional case series performed in a tertiary eyecare center in central Medical records of consecutive cases of microcornea with coloboma who underwent pars-plana vitrectomy with phacofragmentation (PF) between January 2015 and December 2017 were reviewed. " 12/01/2017 - "Endoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome." 02/01/2012 - "The patient was treated by injection of 0.05 mL of autologous platelet concentrate into the coloboma along with vitrectomy and gas exchange. " 11/01/2014 - "Our study confirmed that it is safe to perform a sclerotic puncture 4 mm posterior to the limbus for vitrectomy in patients with choroidal colobomas with or without microcornea." 01/01/2017 - "Vitrectomy-assisted phacoemulsification for lenticular coloboma."
2.	Phacoemulsification 11/01/2006 - "In patients with congenital iris coloboma, phacoemulsification with in-the-bag IOL implantation followed by this pupilloplasty technique was effective in providing functional and cosmetic repair of a congenital iris coloboma." 12/01/2020 - "A retrospective review of 41 eyes (31 patients) with congenital coloboma that underwent phacoemulsification and IOL implantation between September 2012 and September 2018. " 01/01/2017 - "We describe a technique to prevent continuous vitreous hydration during phacoemulsification in eyes with lenticular coloboma. " 04/01/2014 - "To evaluate the visual and refractive outcomes after phacoemulsification surgery in eyes with isolated lens coloboma. " 10/01/2013 - "Outcomes of phacoemulsification in eyes with congenital choroidal coloboma."
3.	Lasers (Laser) 01/01/2022 - "The laser barrage of coloboma obscured these anomalous vessels resulting in the regression of the intraocular mass." 12/28/2020 - "We performed RNAseq of cell populations isolated using laser capture microdissection to identify novel human OFC signature genes and probe the expression profile of known coloboma genes, along with a comparative murine analysis. " 01/01/2016 - "The more recent development of swept-source optical coherence tomography (SS-OCT) with a wavelength-tunable laser centered at 1050 nm and deeper imaging depth of 2.6 mm has enabled clinicians to evaluate congenital optic disc anomalies including optic disc pits, optic disc colobomas, and morning glory syndrome in more detail. " 06/01/2014 - "Prophylactic laser treatment appears to have a protective effect for the prevention of RRD in eyes with chorioretinal coloboma. " 07/01/2012 - "The following day laser was applied around the margin of the choroidal coloboma. "
4.	Light Coagulation 12/01/2016 - "Prophylactic laser photocoagulation of fundal coloboma: does it really help?" 01/01/2016 - "A day later, laser barrage photocoagulation with 810 nm laser was performed along the coloboma margin. " 06/01/1989 - "We report an additional case of subretinal neovascularization associated with retinochoroidal coloboma in a 57-year-old man that was treated with laser photocoagulation. " 06/01/1989 - "The development of subretinal neovascularization as a complication of retinochoroidal coloboma has been reported in only three cases, in only one of which was the patient treated with laser photocoagulation. " 08/01/1986 - "Here, the author reports a case of subretinal neovascular net associated with a retinochoroidal coloboma, which was treated with laser photocoagulation. "
5.	Eyeglasses (Spectacles) 04/01/2000 - "Spectacles were prescribed most frequently for myopia associated with choroidal coloboma. " 09/01/2006 - "Children with aphakia (17), coloboma (5), refractive error (5) and microphthalmos (4) benefited from spectacles. " 04/01/2000 - "The aim of the study was (1) to determine the need for spectacles in children in Southern India with coloboma, microphthalmos and microcornea, (2) to describe their refractive errors and (3) to assess their needs for low vision aids (LVAs). "