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Leber congenital amaurosis 3 (LCA3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Leber congenital amaurosis 3

MONDO:0011415

Also known as:LCA3Leber congenital amaurosis caused by mutation in SPATA7Leber congenital amaurosis type 3

Overview

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.

GeneticsAutosomal recessive · SPATA7 (chr 14)

Clinical Presentation

Features include always present findings: Visual loss and Nystagmus; and sometimes findings: Nyctalopia. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Nystagmus

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Genetic Landscape

SPATA7 function has not been fully characterized.

Leber congenital amaurosis 3 is associated with mutations in the SPATA7 gene on chromosome 14.

Diagnosis

Genetic testing for SPATA7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Leber congenital amaurosis 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

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 Leber congenital amaurosis 3.

51 publications have been identified in PubMed for Leber congenital amaurosis 3. Research spans Epidemiology / Natural History (43%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Disease patterns and progression	22	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604232

GARD

Genetic and Rare Diseases Info Center

GARD:9661

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Leber congenital amaurosis 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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