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X-linked retinoschisis - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Mizuo phenomenon; and common findings: Vitreous hemorrhage, Retinal detachment, Macular atrophy, and Retinal pigment epithelial atrophy. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	6	Retinal detachment, Retinal degeneration, Macular atrophy
Muscles	3	Macular atrophy, Retinal pigment epithelial atrophy, Retinal atrophy

GeneReviews

Clinical Guidance

X-linked congenital retinoschisis (XLRS) is a symmetric bilateral macular disorder with onset in the first decade of life in males, and, in some instances, as early as age three months. Affected males generally present with reduction in vision by early elementary school. Affected males typically have vision of 20/60 to 20/120 on first presentation. Visual acuity may deteriorate slightly during the first and second decades of life but then remains relatively stable until the fifth or sixth decade, when slowly progressive macular atrophy can occur . Visual loss may later progress to legal blindness (acuity 20/200). Some men show macular pigmentary changes after age 50 years; some degree of atrophy of the retinal pigment epithelium is common.

Source: GeneReviews — "X-Linked Congenital Retinoschisis"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for X-linked retinoschisis. An additional 6 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for X-linked retinoschisis, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for X-linked retinoschisis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
Recombinant adeno-associated virus 8 (AAV8) expressing human retinoschisin (RS1) gene	Recombinant adeno-associated virus 8 (AAV8) expressing human retinoschisin (RS1) gene	Chengdu Genevector Biotechnology Co., Ltd.	2024	—	Designated
Engineered adeno-associated virus spreading capsid encapsulating a human retinoschisin (hRS1) transgene	Engineered adeno-associated virus spreading capsid encapsulating a human retinoschisin (hRS1) transgene	Atsena Therapeutics, Inc.	2024	—	Designated
Modified Recombinant adeno-associated virus (rAAV) serotype 2 vector, AAV.IVT18, expressing human retinoschisis gene RS1 driven by RS1 and CMV chimeric promoter	Modified Recombinant adeno-associated virus (rAAV) serotype 2 vector, AAV.IVT18, expressing human retinoschisis gene RS1 driven by RS1 and CMV chimeric promoter	InnoVec Biotherapeutics Inc.	2024	—	Designated
Recombinant adeno-associated virus (rAAV) vector expressing human retinoschisis protein RS1	Recombinant adeno-associated virus (rAAV) vector expressing human retinoschisis protein RS1	Langxin Qisheng (Suzhou) Biopharmaceutical Co., Ltd.	2022	—	Designated
adeno-associated virus type 8 delivering a vector genome with human retinoschisin promoter (RS/IRBP) and the human retinoschisin cDNA (hRS)	adeno-associated virus type 8 delivering a vector genome with human retinoschisin promoter (RS/IRBP) and the human retinoschisin cDNA (hRS)	VegaVect, Inc.	2015	—	Designated
adeno-associated viral vector expressing human retinoschisin-1 gene	adeno-associated viral vector expressing human retinoschisin-1 gene	TeamedOn International, Inc.	2007	—	Designated

Gene therapy approaches for X-linked retinoschisis have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with X-linked congenital retinoschisis (XLRS), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Complete ophthalmologic examination including:
Best corrected visual acuity
Refractive error
Possible amblyopia
Visual fields, by Goldmann or other perimetry
Fundoscopic examination
Optical coherence tomography
Electroretinogram; confirmatory for half or more of cases by an electronegative configuration or b-wave amplitude reduction disproportionate to a-wave loss
Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse for the purpose of informing affected individuals and their families about the nature, mode of inheritance, and implications of XLRS in order to facilitate medical and personal decision making

Note: interviewed and surveyed parents of sons following a confirmed diagnosis of XLRS and describe ways in which medical professionals can optimally support affected individuals and their families.

Clinical Trials

6 trials found

Explore Trials

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

6 clinical trials registered, 3 recruiting. Interventions under study include other interventions, gene therapy, and biologic therapy. Pipeline includes 1 PHASE3, 2 EARLY_PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06066008](https://clinicaltrials.gov/study/NCT06066008)	Safety and Efficacy Study of Novel Gene Therapy ZM-01 for X-linked Retinoschisis Patients	EARLY_PHASE1	Zhongmou Therapeutics	UNKNOWN
[NCT00055029](https://clinicaltrials.gov/study/NCT00055029)	Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis	—	National Eye Institute (NEI)	UNKNOWN
[NCT05814952](https://clinicaltrials.gov/study/NCT05814952)	Safety and Efficacy Study of LX103 Treatment of X-Linked Retinoschisis (XLRS)	NA	Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine	RECRUITING
[NCT07502664](https://clinicaltrials.gov/study/NCT07502664)	Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)	—	Ray Therapeutics, Inc.	RECRUITING
[NCT05878860](https://clinicaltrials.gov/study/NCT05878860)	ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis	PHASE3	Atsena Therapeutics Inc.	RECRUITING

89 publications have been identified in PubMed for X-linked retinoschisis. Research spans Basic Science / Preclinical (26%), Case Report / Case Series (22%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Laboratory research	23	26%
Patient case studies	20	22%
Disease patterns and progression	14	16%
New treatment approaches	11	12%
Clinical study results	8	9%
Research summaries	7

Recent Publications

Xing D (2026). [PMID: 41840530](https://pubmed.ncbi.nlm.nih.gov/41840530/). *BMC Ophthalmol*. [Epidemiology / Natural History]
Andres-Mateos E (2026). [PMID: 41814654](https://pubmed.ncbi.nlm.nih.gov/41814654/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Epidemiology / Natural History]
Sun H (2026). [PMID: 42261552](https://pubmed.ncbi.nlm.nih.gov/42261552/). *Front Genet*. [Epidemiology / Natural History]
Ni RL (2026). [PMID: 40693981](https://pubmed.ncbi.nlm.nih.gov/40693981/). *Ophthalmology. Retina*. [Case Report / Case Series]
Wang W (2026). [PMID: 41942595](https://pubmed.ncbi.nlm.nih.gov/41942595/). *Sci Rep*. [Basic Science / Preclinical]
Ekemiri K (2026). [PMID: 41760155](https://pubmed.ncbi.nlm.nih.gov/41760155/). *BMJ open*. [Review / Meta-Analysis]
Taha I (2026). [PMID: 42106701](https://pubmed.ncbi.nlm.nih.gov/42106701/). *BMC Ophthalmol*. [Review / Meta-Analysis]
Wei X (2026). [PMID: 41759649](https://pubmed.ncbi.nlm.nih.gov/41759649/). *American journal of ophthalmology*. [Epidemiology / Natural History]
Hassan S (2026). [PMID: 41626874](https://pubmed.ncbi.nlm.nih.gov/41626874/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]
Sun H (2026). [PMID: 42211025](https://pubmed.ncbi.nlm.nih.gov/42211025/). *Front Genet*. [Basic Science / Preclinical]

Kisho

X-linked retinoschisis

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

NR2E3

Treatment

Orphan Drug Designations

Management Guidelines

Evaluations Following Initial Diagnosis

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

X-linked retinoschisis

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

NR2E3

Treatment

Orphan Drug Designations

Management Guidelines

Evaluations Following Initial Diagnosis

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team