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vitreoretinal degeneration - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitreoretinal degeneration

MONDO:0020248

Also known as:degenerative vitreoretinopathy

Overview

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

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.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

X-linked congenital retinoschisis (XLRS) should be suspected in males with following ophthalmologic findings and family history.

Ophthalmologic findings

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 vitreoretinal degeneration. The disease remains an area of unmet medical need.

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:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Annual evaluation of children younger than age ten years by a pediatric ophthalmologist to diagnose refractive errors or by a retina specialist to examine the peripheral retina for schisis or detachment is recommended. Older children and adults need less frequent monitoring as they would be more apt to report changes in vision. Patient education and close follow up are the only clinical options that may allow for early identification and treatment of vision-threatening complications such as retinal detachment (Orphanet, accessed 11-2-20).

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.

No clinical trials have been registered for vitreoretinal degeneration.

12 publications have been identified in PubMed for vitreoretinal degeneration. Research spans Case Report / Case Series (75%), Review / Meta-Analysis (8%), and Basic Science / Preclinical (8%).

Research Type	Count	% of Total
Patient case studies	9	75%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98670

GARD

Genetic and Rare Diseases Info Center

GARD:5506

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

vitreoretinal degeneration

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

NR2E3

Treatment of Manifestations

Clinical Trials

Recent Publications

vitreoretinal degeneration

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

NR2E3

Treatment of Manifestations

Clinical Trials

Recent Publications