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Leber congenital amaurosis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Leber congenital amaurosis 1

MONDO:0008764

Also known as:GUCY2D Leber congenital amaurosisLCA1Leber congenital amaurosis caused by mutation in GUCY2D

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Overview

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.

GeneticsAutosomal recessive · GUCY2D (chr 17)

OnsetINFANTILE

Clinical Trials1 registered

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 always present findings: Nystagmus and Reduced visual acuity; and common findings: Keratoconus, Eye poking, Blindness, and Attenuation of retinal blood vessels. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	7	Keratoconus, Pigmentary retinopathy, Optic disc drusen

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GUCY2D encodes guanylate cyclase 2D, retinal (1,103 aa). Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment. Highest expression in Testis (2.4 TPM) and Esophagus Mucosa (0.7 TPM).

Leber congenital amaurosis 1 is associated with mutations in the GUCY2D gene on chromosome 17.

The GUCY2D protein participates in GUCYs converts GTP to cGMP pathway.

GUCY2D is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Transporter categories) with score 17.4.

Diagnosis

Genetic testing for GUCY2D is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 4 common 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.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily industry-sponsored.

12 publications have been identified in PubMed for Leber congenital amaurosis 1. Research spans Epidemiology / Natural History (42%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Disease patterns and progression	5	42%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:204000

GARD

Genetic and Rare Diseases Info Center

GARD:635

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Leber congenital amaurosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Leber congenital amaurosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications