top of page
Writer's pictureMadhuvanthi Mohan

Retinochoroidal Coloboma


-Coloboma can be unilateral or bilateral


-Bilateral colobomas are usually inherited in an autosomal dominant fashion


-If fetal fissure fails to close posteriorly, then a coloboma affecting the retinal pigment epithelium, neurosensory retina or choroid may occur


-Can be associated with lens coloboma due to persistence of mesodermal vascular remnants that prevent development of zonules in that area leading to flattening of the lens edge


-Mutation in PAX6 gene has been reported in association with syndromic forms of colobomata.



FEATURES:


-White background of the sclera usually showing a glistening white sheen replaces normal color of the fundus


-Typically, coloboma is oval.


-Usual location is downwards and inwards.


-Posterior end frequently stops short of the disc


-Anterior end sometimes reaches forwards beyond the limits of ophthalmic examination, due to involvement of the ciliary body region as well


-Edges are pigmented



INVESTIGATIONS:


-Systemic investigations or genetic tests for syndromes


-USG - in hazy media


-OCT - helps in identifying retinal breaks



MANAGEMENT:


Amblyopia:


-Unioculat coloboma not involving the macula can be associated with refractive errors that need prompt correction to avoid development of amblyopia


-In cases with bilateral coloboma, severe refractive errors may lead to ametropic amblyopia



-RD is a frequent complication of choroidal colobomas


-Prophylactic laser photocoagulation at the edge of coloboma


-Surgery for RD usually involves pars plana vitrectomy, endolaser photocoagulation




Image from Rajan Eye Care Hospital



4 views0 comments

Recent Posts

See All

Comments


bottom of page