Ocular coloboma—a comprehensive review for the clinician

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...

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Bibliographic Details
Published in:Eye (London) 2021-08, Vol.35 (8), p.2086-2109
Main Authors: Lingam, Gopal, Sen, Alok C., Lingam, Vijaya, Bhende, Muna, Padhi, Tapas Ranjan, Xinyi, Su
Format: Article
Language:English
Subjects:
692/699/3161/3164
692/699/3161/3175
Acuity
Cataracts
Chromosome aberrations
Eye
Laboratory Medicine
Medicine
Medicine & Public Health
Ophthalmology
Pharmaceutical Sciences/Technology
Retina
Retinal detachment
Review
Review Article
Structure-function relationships
Surgery
Surgical Oncology
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Summary: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.
ISSN:0950-222X
1476-5454
DOI:10.1038/s41433-021-01501-5