Edward H Wood1, Itsara Lertjirachai2, Benjamin K Ghiam3, Nicole Koulisis4, Stavros N Moysidis1, Ali Dirani5, Kimberly A Drenser6, Antonio Capone6, Michael T Trese7. 1. Associated Retinal Consultants, William Beaumont Hospital, Royal Oak, Michigan. 2. Associated Retinal Consultants, William Beaumont Hospital, Royal Oak, Michigan; Department of Ophthalmology, Srinakharinwirot University, Bangkok, Thailand. 3. William Beaumont School of Medicine, Oakland University, Rochester, Michigan. 4. Associated Retinal Consultants, William Beaumont Hospital, Royal Oak, Michigan; USC Roski Eye Institute, Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, California. 5. Centre Universitaire d' Ophtalmologie, CHU de Québec-Université Laval, Quebec City, Canada. 6. Associated Retinal Consultants, William Beaumont Hospital, Royal Oak, Michigan; William Beaumont School of Medicine, Oakland University, Rochester, Michigan. 7. Associated Retinal Consultants, William Beaumont Hospital, Royal Oak, Michigan; William Beaumont School of Medicine, Oakland University, Rochester, Michigan. Electronic address: mgjt46@aol.com.
Abstract
PURPOSE: To evaluate the natural history of congenital X-linked retinoschisis (CXLRS) and to assess disease stability or progression over time. DESIGN: Retrospective case series at a single-center, tertiary care, pediatric retina practice. PARTICIPANTS: One hundred two eyes of 51 patients with CXLRS. METHODS: The clinical examinations, fundus photographs, and OCT images of all patients with CXLRS were assessed. Eyes that initially demonstrated combined retinoschisis-retinal detachments and those with large, centrally overhanging schisis cavities were excluded from the analysis (n = 49) because they underwent surgery, which precluded observation of the natural disease course. MAIN OUTCOME MEASURES: Stability or conversion of CXLRS phenotype over time. RESULTS: Fifty-three eyes met inclusion criteria for observation of natural disease history over time. At the time of diagnosis, 7.5% of eyes showed type 1 disease (n = 4), 17% showed type 2 disease (n = 9), 66% showed type 3 disease (n = 35), and 9.5% showed type 4 disease (n = 5). Mean length of follow-up was 7.4 years. A total of 7.5% of eyes demonstrated a combined retinoschisis-retinal detachment requiring surgery (n = 4), whereas 1.8% demonstrated a large, centrally overhanging schisis cavity requiring surgery (n = 1). Overall, 83% of eyes (n = 44) remained the same type without conversion or development of a complication requiring surgery. The remaining 17% of eyes (n = 9) experienced some type of change from their baseline diagnosis, with 7.5% (n = 4) converting between phenotypes and 9.5% (n = 5) demonstrating a complication requiring surgery; 3.75% of eyes (n = 2) converted from type 2 to 3 and 7.5% of eyes (n = 4) converted from type 3 to a combined retinoschisis-retinal detachment with mean time to conversion of 4.07 years. CONCLUSIONS: This longitudinal study conveyed the natural history of CXLRS. Congenital X-linked retinoschisis displayed long-term stability in 83% of eyes with conversion or progression of the disease to a more severe phenotype in the remaining cases. Type 3 CXLRS was a risk factor for the development of a combined retinoschisis-retinal detachment and may benefit from closer follow-up.
PURPOSE: To evaluate the natural history of congenital X-linked retinoschisis (CXLRS) and to assess disease stability or progression over time. DESIGN: Retrospective case series at a single-center, tertiary care, pediatric retina practice. PARTICIPANTS: One hundred two eyes of 51 patients with CXLRS. METHODS: The clinical examinations, fundus photographs, and OCT images of all patients with CXLRS were assessed. Eyes that initially demonstrated combined retinoschisis-retinal detachments and those with large, centrally overhanging schisis cavities were excluded from the analysis (n = 49) because they underwent surgery, which precluded observation of the natural disease course. MAIN OUTCOME MEASURES: Stability or conversion of CXLRS phenotype over time. RESULTS: Fifty-three eyes met inclusion criteria for observation of natural disease history over time. At the time of diagnosis, 7.5% of eyes showed type 1 disease (n = 4), 17% showed type 2 disease (n = 9), 66% showed type 3 disease (n = 35), and 9.5% showed type 4 disease (n = 5). Mean length of follow-up was 7.4 years. A total of 7.5% of eyes demonstrated a combined retinoschisis-retinal detachment requiring surgery (n = 4), whereas 1.8% demonstrated a large, centrally overhanging schisis cavity requiring surgery (n = 1). Overall, 83% of eyes (n = 44) remained the same type without conversion or development of a complication requiring surgery. The remaining 17% of eyes (n = 9) experienced some type of change from their baseline diagnosis, with 7.5% (n = 4) converting between phenotypes and 9.5% (n = 5) demonstrating a complication requiring surgery; 3.75% of eyes (n = 2) converted from type 2 to 3 and 7.5% of eyes (n = 4) converted from type 3 to a combined retinoschisis-retinal detachment with mean time to conversion of 4.07 years. CONCLUSIONS: This longitudinal study conveyed the natural history of CXLRS. Congenital X-linked retinoschisis displayed long-term stability in 83% of eyes with conversion or progression of the disease to a more severe phenotype in the remaining cases. Type 3 CXLRS was a risk factor for the development of a combined retinoschisis-retinal detachment and may benefit from closer follow-up.
Authors: Camasamudram Vijayasarathy; Yong Zeng; Dario Marangoni; Lijin Dong; Zhuo-Hua Pan; Elizabeth M Simpson; Robert N Fariss; Paul A Sieving Journal: Invest Ophthalmol Vis Sci Date: 2022-10-03 Impact factor: 4.925