Recurrent retinal detachment secondary to hereditary congenital collagen disease

Abstract

Purpose Hereditary progressive arthro‐ophthalmopathy, also called Stickler syndrome, is an autosomal dominant genetic disease affecting connective tissue collagen. It is considered the leading cause of inherited retinal detachment in all ages and produces multisystem manifestations such as premature arthritis, micrognathia or eye disorder. Methods A 31‐year‐old man reports hereditary progressive arthro‐ophthalmopathy. He presented degenerative myopia, congenital cataract and bilateral recurrent retinal detachments during childhood. At birth, he presented craniofacial anomalies, hearing loss and flat feet. When he was 6 years old, he suffered a retinal detachment associated with giant tear, which was treated with 20G pars plana vitrectomy and injection of silicone oil. At 22 years, the right eye presented another retinal detachment that was treated with silicone band placement, cryotherapy and C3F8 gas intravitreal injection. Two months later the retinal detachment recurred in right eye, needing 23 G pars plana vitrectomy and intravitreal silicone oil implantation. Results The patient presented several ophthalmic complications such as post‐surgical ocular hypertension and retinal tears requiring selective photocoagulation with argon laser in the right eye. Recently, genetic diagnosis was confirmed by COL11A1 gene mutation. Conclusion Development, prevention and therapeutic management of ophthalmic complications during 26 years follow‐up are presented. The importance of early diagnosis and follow‐up by a vitreoretinal surgeon are also emphasized.