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autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

MONDO:0017804

Overview

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.

Diagnosis

Biomarker and diagnostic research for autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome.

71 publications have been identified in PubMed for autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	39	57%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:314572

GARD

Genetic and Rare Diseases Info Center

GARD:21378

Questions for Your Care Team

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autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications