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stromal corneal dystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

stromal corneal dystrophy

MONDO:0020213

Also known as:corneal dystrophy (disease) of substantia propria of corneacorneal stromal dystrophysubstantia propria of cornea corneal dystrophy (disease)

Overview

The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.

OnsetNEONATAL

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.

No HPO annotations are available for this condition.

Age of onset: newborn period.

GeneReviews

Clinical Guidance

Only seven families with the characteristic findings of congenital stromal corneal dystrophy (CSCD) have been reported in the literature [, , , , , , ]. Some interfamilial variation has been noted among the affected individuals. In addition, have reported a family with late onset of features resembling CSCD. In a Norwegian family with 11 affected individuals, bilateral corneal opacities were observed at or slightly after birth . Slit lamp examination revealed small flakes and spots distributed in all layers of the stroma from limbus to limbus. The surface of the cornea was slightly irregular. Most affected individuals had best corrected visual acuity within the range of 0.3-0.63. Four out of 11 had strabismus. None had nystagmus. The corneal diameter was normal.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Congenital stromal corneal dystrophy (CSCD) should be suspected in individuals with bilateral corneal opacities that are seen at or shortly after birth , particularly if:

The surface of the cornea is normal or slightly irregular.
Small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for stromal corneal dystrophy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with congenital stromal corneal dystrophy (CSCD), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Visual acuity and routine ophthalmologic examination should be performed at least every year in children. Regular surveillance in adults is not necessary unless they have undergone keratoplasty. Affected individuals should be informed about penetrating keratoplasty and advised to contact their eye doctor in case of reduced visual acuity or increased glare.

Source: GeneReviews — "Congenital Stromal Corneal Dystrophy"

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 stromal corneal dystrophy.

41 publications have been identified in PubMed for stromal corneal dystrophy. Research spans Case Report / Case Series (46%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	18	46%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98626

GARD

Genetic and Rare Diseases Info Center

GARD:19519

Questions for Your Care Team

→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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GeneReviews

Differential Diagnosis

Bilateral congenital opacifications of the cornea can be caused by several disorders/conditions : • Various corneal dystrophies , primarily congenital hereditary endothelial dystrophy (OMIM 217700) • Congenital glaucoma • Systemic storage disease • Malformations of the anterior segment • Inflammation Table 2. Disorders with Bilateral Congenital Opacifications of the Cornea to Consider in the Differential Diagnosis of Congenital Stromal Corneal Dystrophy (CSCD)

Disorder/Condition	Gene(s) / Chromosome Locus	MOI	Additional Clinical Features of This Disorder
SLC4A11	AR	Corneal clouding; Nystagmus	Thick cornea; Corneal edema; Diffuse opacity Posterior polymorphous corneal dystrophy
GRHL2	AD	Corneal clouding w/corneal opacities	Changes at Descemets membrane endothelium w/vesicular lesions
Peripheral anterior synechiae Posterior amorphous corneal dystrophy	12q21.33	AD	Corneal opacities
TEK	AR1	Corneal clouding; Photophobia	Tearing blepharospasm; intraocular pressure; corneal diameter; Breaks in Descemets membrane Mucopolysaccharidosis (I, IV, VI)
ARSB	AR	Corneal clouding	Systemic involvement Anterior segment dysgenesis (Peters anomaly)
PITX3	ARAD	Corneal clouding	Large, central opacities; Iridocorneal adhesions
Iris anomalies Inflammation	NA	NA	Corneal clouding

Source: GeneReviews — "Congenital Stromal Corneal Dystrophy"

Kisho

stromal corneal dystrophy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Surveillance

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

stromal corneal dystrophy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Surveillance

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications