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isolated foveal hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated foveal hypoplasia

MONDO:0034978

Overview

A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.

ResearchLimited published research (1 article)

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 isolated foveal hypoplasia.

1 publication has been identified in PubMed for isolated foveal hypoplasia. Research spans Case Report / Case Series (100%).

Recent Publications

Klejnotowska AE (2024). [PMID: 38957076](https://pubmed.ncbi.nlm.nih.gov/38957076/). *Ophthalmic Genet*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:519398

GARD

Genetic and Rare Diseases Info Center

GARD:22127

Questions for Your Care Team

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isolated foveal hypoplasia

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team