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fleck corneal dystrophy (FCD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fleck corneal dystrophy

MONDO:0007376

Also known as:FCDFranC'ois-Neetens speckled corneal dystrophyFrancois-Neetens speckled corneal dystrophy

Overview

Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.

GeneticsAutosomal dominant · PIKFYVE (chr 2)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Photophobia and Speckled corneal dystrophy.

Organ System	Phenotype Count	Example Features
Eyes	1	Speckled corneal dystrophy

Explore clinical features

Genetic Landscape

PIKFYVE function has not been fully characterized.

Fleck corneal dystrophy is associated with mutations in the PIKFYVE gene on chromosome 2.

Diagnosis

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

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 fleck corneal dystrophy.

6 publications have been identified in PubMed for fleck corneal dystrophy. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Attia K (2026). [PMID: 41643834](https://pubmed.ncbi.nlm.nih.gov/41643834/). *Exp Eye Res*. [Basic Science / Preclinical]
Elhardt C (2025). [PMID: 40537778](https://pubmed.ncbi.nlm.nih.gov/40537778/). *BMC Ophthalmol*. [Epidemiology / Natural History]
Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Misaghi E (2025). [PMID: 39694407](https://pubmed.ncbi.nlm.nih.gov/39694407/). *Exp Eye Res*. [Review / Meta-Analysis]
de J López-Rodríguez VR (2024). [PMID: 38956867](https://pubmed.ncbi.nlm.nih.gov/38956867/). *Ophthalmic Genet*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:121850

Orphanet

European rare disease database

Orphanet:98970

GARD

Genetic and Rare Diseases Info Center

GARD:16879

Questions for Your Care Team

→Should I pursue genetic testing for PIKFYVE, and what would the results mean for my family?
→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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fleck corneal dystrophy

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team