Ocular coloboma—a comprehensive review for the clinician

Abstract

Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. The ocular manifestations vary widely. At one extreme, the eye is hardly recognisable and non-functional—having been compressed by an orbital cyst, while at the other, one finds minimalistic involvement that hardly affects the structure and function of the eye. In the fundus, the variability involves the size of the coloboma (anteroposterior and transverse extent) and the involvement of the optic disc and fovea. The visual acuity is affected when coloboma involves disc and fovea, or is complicated by occurrence of retinal detachment, choroidal neovascular membrane, cataract, amblyopia due to uncorrected refractive errors, etc. While the basic birth anomaly cannot be corrected, most of the complications listed above are correctable to a great extent. Current day surgical management of coloboma-related retinal detachments has evolved to yield consistently good results. Cataract surgery in these eyes can pose a challenge due to a combination of microphthalmos and relatively hard lenses, resulting in increased risk of intra-operative complications. Prophylactic laser retinopexy to the border of choroidal coloboma appears to be an attractive option for reducing risk of coloboma-related retinal detachment. However, a majority of the eyes have the optic disc within the choroidal coloboma, thus making it difficult to safely administer a complete treatment.

Lens Biometry in Congenital Lens Deformities: A Swept-Source Anterior Segment OCT Analysis

“…Collectively, these findings indicate a greater strength imposed by the anterior tines of equatorial zonules than that of the posterior ones. Moreover, “true” coloboma is caused by a defective closure of the embryonal fissure, involving mutilation of the optic disc, retina, choroid, iris, ciliary body, and lens ( 33 ). Though the ocular multisegment coloboma has been reported in a Marfan syndrome patient ( 13 ).…”

Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient

“…Differential diagnosis was conducted to review diseases of syndromic ocular coloboma with CHDs. The reviewing criteria were retrieved from the Online Mendelian Inheritance in Man (OMIM) database and previous research articles (Chang et al, 2006 ; Lingam et al, 2021 ; Prichard, 1992 ).…”

Isolated circumpapillary coloboma with normal optic disc: a rare presentation

“…2 The visual acuity is affected when coloboma involves disc and fovea, or is complicated by occurrence of retinal detachment, choroidal neovascular membrane, cataract, amblyopia due to uncorrected refractive errors, etc. 3 As per Ida Mann's classification, 4 there are seven types of fundal colobomas: type 1, coloboma extending above the optic disc; type 2, coloboma extending up to superior border of disc; type 3, coloboma extending below the lower border of disc; type 4, coloboma involving the disc only; type 5, coloboma present below the disc with normal retina above and below the coloboma; type…”