Expert consensus on the diagnosis and treatment of X-linked retinoschisis in China (2025)

Author: Genetic Eye Disease Group, Ophthalmologist Branch, Chinese Medical Doctor Association
  

Citation

Genetic Eye Disease Group, Ophthalmologist Branch, Chinese Medical Doctor. Expert consensus on the diagnosis and treatment of X-linked retinoschisis in China (2025)[J]. Chin J Exp Ophthalmol, 2025, 43(1):1-8. DOI: 10.3760/cma.j.cn115989-20240929-00276.

ABSTRACT                   [Download PDF] [Read Full Text

X-linked retinoschisis (XLRS), known as hereditary retinoschisis, is an X-linked recessive and refractory retinal disease that significantly impacts patients’ vision and quality of life.The main characteristics of XLRS include mild to severe vision loss, inter- or intra-layer splitting of retinal neuroepithelium, and a notable reduction in the b-wave amplitude of electroretinogram (ERG).While the pathogenesis of XLRS remains unclear, its accurate diagnosis relies on the patient’s clinical phenotype, the characteristic negative waveform of the ERG, the presence of cystic changes in the macular area on optical coherence tomography (OCT), and genetic diagnosis.Currently, there is no effective treatment for XLRS in clinical practice, and gene replacement therapy represents the latest advance in treatment research.However, due to limited awareness of the disease among clinicians, standardizing the diagnosis and treatment of XLRS remains a challenge.In response, the Genetic Eye Disease Group, Ophthalmologist Branch, Chinese Medical Doctor Association has developed Expert consensus on the diagnosis and treatment of X-linked retinoschisis in China (2025), based on published research, ongoing clinical trials, and the clinical experience of experts.The consensus provides recommendations on the basic understanding, pathogenesis, diagnostic processes, treatment advances, and genetic counseling of the disease, aiming to guide clinicians in improving clinical practice.

X-linked retinoschisis;Diagnosis;Treatment;Expert consensus

Authors Info & Affiliations 

Genetic Eye Disease Group, Ophthalmologist Branch, Chinese Medical Doctor Association
Chen Jiansu
Aier Academy of Ophthalmology, Central South University, Aier Eye Institute, Changsha 410035, China
Sui Ruifang
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
Tang Shibo
Aier Academy of Ophthalmology, Central South University, Aier Eye Institute, Changsha 410035, China
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