This presentation describes a teenage patient who presented with bilateral retinal detachments. He has a strong family history of Stickler Syndrome. Additionally, there is a family history of multiple types of cancers, specifically GI cancers. The patient underwent an exam under anesthesia followed by bilateral scleral buckling, lensectomy, pars plana vitrectomy, 360-degree endolaser and silicone oil tamponade. His post-operative course was complicated by neurotrophic corneal epithelial defects which were managed by sutured amniotic membrane grafts and eventual bilateral partial tarsorrhaphy. In order to rule out vitamin deficiencies, specifically vitamin A deficiency, for neurotrophic corneas, he had a laboratory work-up sent. The tested vitamin levels, including vitamin A, were normal. In addition, the patient had several pigmented fundus lesions. Given these suspicious lesions and the strong family history of GI cancers, a multi-cancer genetic panel was sent which revealed a mutation in the APC gene as well as several others. Given the relationship between APC and autosomal dominant familial adenomatous polyposis as well as a number of other cancers, the pediatrician was notified to arrange a genetic consult and immediate referral to the gastroenterology service. In terms of his ocular outcome, at last follow up the corneas were improving, and he was attached in both eyes. He developed PVR in the left eye, but this has not yet progressed, and he remains attached. remnant host endothelial cells then undergo an endothelial-to-mesenchymal transformation, resulting in peripheral anterior synechiae and these retrocorneal membranes. Several pathological markers have been identified in these membranes, and several research projects have looked into targeting these markers for therapeutic purposes. However, more specific and stronger therapeutics are currently needed to target these pathological markers in order to properly treat this complex condition.
Presentation Date: 05/05/2022
Issue Date: 06/17/2022