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anterior segment dysgenesis (ASGD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

anterior segment dysgenesis

MONDO:0019503

Also known as:ASGDASMDASOD

Find Clinical TrialsTrials

Overview

A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).

Clinical Trials1 registered · 1 recruiting

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.

GeneReviews

Clinical Guidance

PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia, a congenital eye anomaly, is usually detected at birth if fully penetrant. It is often the presenting feature of WAGR syndrome; children with WAGR syndrome are at significant risk of developing Wilms tumor during early childhood.

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

PAX6-related aniridia includes isolated aniridia without systemic involvement and the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. No formal diagnostic criteria have been published.

Suggestive Findings

PAX6-related isolated aniridia should be suspected in probands who have the following clinical and imaging findings of aniridia with no other associated systemic abnormalities.

Clinical findings

Source: GeneReviews — "PAX6-Related Aniridia"

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 anterior segment dysgenesis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluation Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with aniridia (whether isolated or part of Wilms tumor-aniridia-genital anomalies-retardation [WAGR] syndrome), the following are recommended:

Evaluation of visual acuity (not easily performed in infants) and documentation of the degree of iris tissue deficiency, and the presence of foveal and optic nerve hypoplasia in order to predict future visual function.

Prognosis

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

GeneReviews

Surveillance Guidelines

Aniridia

Amblyopia and refractive error. Children younger than age eight years should be monitored every four to six months for refractive errors and detection and treatment of incipient or actual amblyopia (strabismic, refractive, or sensory). Glasses and other visual aids should be provided to optimize access to educational materials. Detection of later-onset eye pathology. Individuals with aniridia should have an annual ophthalmology review to detect issues such as corneal changes, raised intraocular pressure, and cataracts. Glaucoma. Individuals with aniridia should undergo annual glaucoma screening throughout life including:

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.

64 publications have been identified in PubMed for anterior segment dysgenesis. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (30%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	21	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:88632

GARD

Genetic and Rare Diseases Info Center

GARD:10025

Questions for Your Care Team

→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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Kisho

anterior segment dysgenesis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluation Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Aniridia

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Individuals with Aniridia and No Identifiable PAX6 Pathogenic Variant

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

WAGR Syndrome

Recent Publications

Latest News & Developments

Molecular and Clinical Analyses of 111 Patients with Bilateral Anterior-Segment Dysgenesis/Aniridia and Microphthalmia/Anophthalmia.

anterior segment dysgenesis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluation Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Aniridia

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Individuals with Aniridia and No Identifiable PAX6 Pathogenic Variant

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

WAGR Syndrome

Recent Publications

Latest News & Developments

Molecular and Clinical Analyses of 111 Patients with Bilateral Anterior-Segment Dysgenesis/Aniridia and Microphthalmia/Anophthalmia.