An Unusual Retinal Presentation of a Novel Mutation: A Case Report.

Introduction: Stickler syndrome is a rare collagenopathy, caused by mutations in various genes coding for fibrillar collagens II, IX, and XI. The disorder can be subdivided into different groups, depending on the genes affected and clinical features found in patients. Ocular symptoms, such as high myopia, retinal detachments, or anomalies in the vitreous, are present in most forms of Stickler syndrome. In this case report, we present a patient with an unusual retinal phenotype.

Case Presentation: Subject of this case report is a 33-year-old woman, who was examined at the Department of Ophthalmology at Medical University of Graz. A thorough ophthalmological examination was conducted, detailed medical and family history acquired, and genetic testing performed. Best corrected visual acuity was 20/20 on both eyes; however, impaired binocular vision associated with intermittent exotropia was found. Furthermore, dilated fundoscopy showed an unusual, hypopigmented spotted retinal phenotype. Fundus autofluorescence showed multiple hyperfluorescent spots corresponding with the spotted retinal appearance. Genetic testing revealed a novel variant in the gene . No other ocular abnormalities which are associated with were found.

Conclusion: Several subtypes of Stickler syndrome have been reported in medical literature, greatly varying in clinical manifestations. Many different mutations in the gene have been discovered and are typically associated with Stickler syndrome type 2. To our best knowledge, this is the first report of a patient with a mutation in the gene presenting with a hypopigmented spotted retina.