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amaurosis-hypertrichosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amaurosis-hypertrichosis syndrome

MONDO:0008766

Also known as:amaurosis congenita cone-rod type with congenital hypertrichosisamaurosis congenita, cone-rod type, with congenital hypertrichosis

Overview

Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.

ResearchLimited published research (1 article)

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 amaurosis-hypertrichosis syndrome.

1 publication has been identified in PubMed for amaurosis-hypertrichosis syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Italian journal of pediatrics*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 11:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:204110

Orphanet

European rare disease database

Orphanet:1021

GARD

Genetic and Rare Diseases Info Center

GARD:637

Questions for Your Care Team

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amaurosis-hypertrichosis syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team