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congenital stationary night blindness - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital stationary night blindness

MONDO:0016293

Also known as:Oguchi's diseasecongenital essential nyctalopiacongenital night blindness

Find Clinical TrialsTrials

Overview

OnsetCHILDHOOD, ADULT

Clinical Trials1 registered · 1 recruiting

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.

Features include very common findings: Myopia, Nyctalopia, Reduced visual acuity, and Abnormal dark-adapted electroretinogram; and common findings: Strabismus, Nystagmus, Congenital stationary night blindness with normal fundus, and Congenital stationary night blindness with abnormal fundus. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	7	Strabismus, Nystagmus, Congenital stationary night blindness with normal fundus

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

The International League Against Epilepsy (ILAE) has proposed diagnostic criteria for sleep-related hypermotor (hyperkinetic) epilepsy (SHE) , which consist of three groups of criteria. Mandatory feature. Brief focal motor seizure with hyperkinetic or asymmetric tonic/dystonic features occurring predominantly during sleep Alerts. Features that are absent in most cases but rarely can be seen. Their presence should result in caution in diagnosing the syndrome and consideration of other conditions. They include the following:

Source: GeneReviews — "Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy"

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 congenital stationary night blindness. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines regarding the management for autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with ADSHE, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy

Prognosis

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

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7. Recommended Surveillance for Individuals with Autosomal Dominant Sleep-related Hypermotor Epilepsy (ADSHE)

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

76 publications have been identified in PubMed for congenital stationary night blindness. Research spans Basic Science / Preclinical (30%), Case Report / Case Series (26%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Laboratory research	23	30%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:215

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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System/Concern	Evaluation	Comment
Neurologic	Assessment by neurologist w/eval of suspected seizures as indicated	To incl EEG high-resolution brain MRI to evaluate for focal brain malformations, if suspected based on seizure semiology
Development	Assessment by developmental specialist	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Psychiatric	Assessment by psychiatrist	For any psychiatric comorbidities or complications
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of ADSHE to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy Manifestation/Concern	Treatment	Considerations/Other
Epilepsy	Standardized treatment w/ASM by epileptologist or experienced neurologist	Many ASM may be effective; In about 70% of persons w/ADSHE, carbamazepine is assoc w/remission of seizures, often w/relatively low doses. However, persons w/ADSHE assoc w/CHRNA4 pathogenic variant respond only partially to carbamazepine are more responsive to zonisamide.
Developmental delay/ Intellectual disability	See .	—
Psychiatric issues	Standardized treatment by psychiatrist	Family/Community

Kisho

congenital stationary night blindness

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

congenital stationary night blindness

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications