A case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.

Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina. To our knowledge, this is first documented case in the peer review literature of foveal Coloboma in SWS. This case report highlights this important finding in special cases of secondary open angle glaucoma related to SWS.

Case Presentation: A 5 month old baby girl, known to have SWS. Presented to our ER with high Intraocular pressure (IOP). Upon external examination, the child had port wine stain on the left side of her face. The dilated fundus exam revealed foveal coloboma which is not known as ocular clinical feature in cases of SWS. The fundus exam also showed diffuse choroidal hemangioma nasal to the disc. The case was managed with Micropulse Cyclophotocoagulation. The IOP was stable during 2 years of follow up.

Discussion: Choroidal colobomas can be vision threatening due macular and optic disc involvement. Choroidal colobomas increase the risk of retinal detachment, and subfoveal choroidal neovascularization. They can occur as a part of genetic disorders such as CHARGE syndrome. In our case the foveal location of the coloboma and the anisometropic amblyopia both led to the decrease of vision and amblyopia in that eye.

Conclusions: Reporting a macular coloboma in a patient with SWS. After conducting a literature review on foveal Coloboma utilizing PubMed, Google Scholar, Cochrane Library and ScienceDirect using the key words (Foveal coloboma, Macula coloboma, Sturge Weber Syndrome), we did not find any prior reports of foveal Coloboma in SWS.