Atypical superior iris and retinochoroidal coloboma

Jain, Arvind; Ranjan, Ratnesh; Manayath, George J

doi:10.4103/ijo.ijo_531_18

Cited by 5 publications

(6 citation statements)

References 3 publications

(3 reference statements)

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“…There is a rare subset of ocular coloboma, called atypical coloboma, which is described as a coloboma that presents in the nasal, temporal, or superior aspects of the eye (Abouzeid et al, 2009; Hocking et al, 2018; Jain, Ranjan, & Manayath, 2018; Kumar, Valliappan, & Bansal, 2020; Onwochei, Simon, Bateman, Couture, & Mir, 2000). While ocular coloboma has been studied extensively and the importance of choroid fissure closure has been established, little is known regarding atypical coloboma.…”

Section: Atypical Colobomamentioning

confidence: 99%

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Ocular coloboma: Genetic variants reveal a dynamic model of eye development

Yoon

Fox

Dicipulo

et al. 2020

American J of Med Genetics Pt C

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Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina, lens, iris, or optic nerve tissue. With a prevalence of 2-19 per 100,000 live births, coloboma, and microphthalmia, an associated ocular disorder, represent up to 10% of childhood blindness. It manifests due to the failure of choroid fissure closure during eye development, and it is a part of a spectrum of ocular disorders that include microphthalmia and anophthalmia. Use of genetic approaches from classical pedigree analyses to next generation sequencing has identified more than 40 loci that are associated with the causality of ocular coloboma. As we have expanded studies to include singleton cases, hereditability has been very challenging to prove. As such, researchers over the past 20 years, have unraveled the complex interrelationship amongst these 40 genes using vertebrate model organisms. Such research has greatly increased our understanding of eye development. These genes function to regulate initial specification of the eye field, migration of retinal precursors, patterning of the retina, neural crest cell biology, and activity of head mesoderm. This review will discuss the discovery of loci using patient data, their investigations in animal models, and the recent advances stemming from animal models that shed new light in patient diagnosis.

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Section: Atypical Colobomamentioning

confidence: 99%

Section: Atypical Colobomamentioning

confidence: 99%

Ocular coloboma: Genetic variants reveal a dynamic model of eye development

Yoon

Fox

Dicipulo

et al. 2020

American J of Med Genetics Pt C

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“…2 Of the patients in the Hocking case series, only 3 had superior chorioretinal colobomata, and of these only 1 had an associated defect in another ocular structure (the iris). 2 In addition, Jain et al 14 reported a case of a 38-year-old woman with a superior chorioretinal coloboma associated with an iris coloboma, and an "hourglass" chorioretinal coloboma was reported in a case report by Kumar and colleagues 15 in which multiple chorioretinal colobomata were present in the same eye. To the best of the authors' knowledge, these are the only reported cases of superior chorioretinal colobomata similar to the coloboma in our patient, but our patient is the only report of a superior coloboma-associated RD.…”

Section: Discussionmentioning

confidence: 97%

“…4 Few reported cases of superior chorioretinal colobomata have been reported. 2,14,15 Because the optic cup fissure is a structure in the inferior hemisphere of the developing eye, superior colobomata must form from a different mechanism. In their report of a series of 8 patients with superior colobomata, Hocking et al 2 have proposed a novel model of development.…”

Section: Discussionmentioning

confidence: 99%

Repair of Superior Chorioretinal Coloboma-Associated Retinal Detachments: Case Report and Literature Review

Shaw

Schechet

Avdagic

et al. 2019

Journal of VitreoRetinal Diseases

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Purpose: This case report discusses the management of a patient with a superior chorioretinal coloboma-associated retinal detachment (RD), including surgical management, along with a review of the literature. Methods: A case report is presented. Results: A 58-year-old man presented with a chronic RD of the right eye that was symptomatic for approximately 1 year prior to presentation. On examination, he was found to have a macula-off RD associated with superior chorioretinal coloboma. He underwent 23-gauge pars plana vitrectomy with membrane peel, endolaser, and perfluoropropane (14%) gas tamponade. Three months after his surgery, his best-corrected visual acuity in his right eye was 20/250 distance and 20/80 near, and his retina remained attached. Conclusions: This case report describes surgical management of a superior chorioretinal coloboma-associated RD.

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“…The typical inferior iris and retinochoroidal coloboma occurs due to the failure of closure of choroidal fissures during embryogenesis. [ 1 2 3 ] Variation in genes encoding the type 1 bone morphogenetic protein receptor (BMPR1A) and Tbox transcription factor 2 leads to superior retinochoroidal coloboma due to incomplete closure of superior ocular sulcus. [ 4 ]…”

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confidence: 99%