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fundus albipunctatus - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fundus albipunctatus

MONDO:0007639

Also known as:retinitis punctata albescenspigmentary retinal dystrophy

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Overview

Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.

GeneticsAutosomal recessive, Autosomal dominant · 4 genes (PRPH2, RDH5, RHO, RLBP1)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Features include: Retinal flecks, Nyctalopia, and Fundus albipunctatus.

Organ System	Phenotype Count	Example Features
Eyes	1	Retinal flecks

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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.

PRPH2

PRPH2 function has not been fully characterized.

Fundus albipunctatus is associated with mutations in the PRPH2 gene on chromosome 6.

RDH5

RDH5 function has not been fully characterized.

Fundus albipunctatus is associated with mutations in the RDH5 gene on chromosome 12.

RHO

RHO function has not been fully characterized.

Fundus albipunctatus is associated with mutations in the RHO gene on chromosome 3.

RLBP1

RLBP1 function has not been fully characterized.

Fundus albipunctatus is associated with mutations in the RLBP1 gene on chromosome 15.

Diagnosis

Genetic testing for PRPH2, RDH5, RHO, RLBP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

17 publications have been identified in PubMed for fundus albipunctatus. Research spans Case Report / Case Series (41%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	7	41%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:136880

Orphanet

European rare disease database

Orphanet:227796

GARD

Genetic and Rare Diseases Info Center

GARD:13809

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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fundus albipunctatus

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

PRPH2

RDH5

RHO

RLBP1

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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