Andrea Lembo1, Giacomo Maria Bacci2, Massimiliano Serafino1, Stefano Lucentini1, Roberto Caputo2, Sara Bargiacchi3, Ilaria Passerini4, Francesco Barca5, Paolo Nucci1. 1. Department of Clinical Sciences and Community Health, Eye Clinic San Giuseppe Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Multimedica, University of Milan, Milan, Italy. 2. Pediatric Ophthalmology Unit, Children's Hospital A. Meyer, University of Florence, Florence, Italy. 3. Medical Genetics Unit, Children's Hospital A. Meyer, University of Florence, Florence, Italy. 4. Department of Genetic Diagnosis, Careggi Teaching Hospital, University of Florence, Florence, Italy. 5. Department of Neuroscience, Ophthalmology Unit, Careggi Teaching Hospital, Florence, Italy.
Abstract
PURPOSE: To describe the unusual presentation, diagnosis, and clinical course of an early-onset X-linked infantile retinoschisis. CASE REPORT: A 6-month-old infant presented with strabismus and poor fixation. After the detection of bilateral intraretinal hemorrhage and diffuse dystrophic retinal pattern at indirect ophthalmoscopy, the patient received a complete evaluation under anesthesia. Retinal wide-field imaging, spectral domain optical coherence tomography, and electroretinogram were performed and revealed a retinoschisis involving the posterior pole and the inferior periphery in the right eye. In the left eye, an inferior retinal detachment extending to the macula was detected. Blood sample and genetic counseling were required in the strong suspicion of an inherited retinal dystrophy. Genetic tests confirmed the diagnosis of X-linked retinoschisis (RS1 gene mutation). After consultation with a pediatric vitreoretinal surgeon, a wait and see strategy was chosen. The follow up visits showed a surprisingly good natural course of the disease. CONCLUSION: X-linked retinoschisis is a well-known inherited retinal disease potentially affecting young children as early as 3 months old. In this case, the stunning presentation (diffuse retinal pigment epithelium dystrophic changes resembling a macular dystrophy) and the positive course of the disease (resolution of macular retinal detachment in the left eye and stability of schisis in the right eye) arise some interesting considerations about the necessity of an early surgical treatment.
PURPOSE: To describe the unusual presentation, diagnosis, and clinical course of an early-onset X-linked infantile retinoschisis. CASE REPORT: A 6-month-old infant presented with strabismus and poor fixation. After the detection of bilateral intraretinal hemorrhage and diffuse dystrophic retinal pattern at indirect ophthalmoscopy, the patient received a complete evaluation under anesthesia. Retinal wide-field imaging, spectral domain optical coherence tomography, and electroretinogram were performed and revealed a retinoschisis involving the posterior pole and the inferior periphery in the right eye. In the left eye, an inferior retinal detachment extending to the macula was detected. Blood sample and genetic counseling were required in the strong suspicion of an inherited retinal dystrophy. Genetic tests confirmed the diagnosis of X-linked retinoschisis (RS1 gene mutation). After consultation with a pediatric vitreoretinal surgeon, a wait and see strategy was chosen. The follow up visits showed a surprisingly good natural course of the disease. CONCLUSION: X-linked retinoschisis is a well-known inherited retinal disease potentially affecting young children as early as 3 months old. In this case, the stunning presentation (diffuse retinal pigment epithelium dystrophic changes resembling a macular dystrophy) and the positive course of the disease (resolution of macular retinal detachment in the left eye and stability of schisis in the right eye) arise some interesting considerations about the necessity of an early surgical treatment.