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Genetic diagnosis and analysis of a family with Axenfeld-Rieger syndrome

Genetic diagnosis and analysis of a family with Axenfeld-Rieger syndrome

Status
Recruiting
Phases
Early Phase 1
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2300077481
Enrollment
Unknown
Registered
2023-11-09
Start date
2023-11-09
Completion date
Unknown
Last updated
2023-11-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Axenfeld-Rieger Syndrome

Interventions

AR family member:NA

Sponsors

Shanghai Ninth Peiple's Hospital, Shanghai Jiao Tong University School of Medicine
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 90 Years

Inclusion criteria

Inclusion criteria: AR syndrome progenitors and their direct and collateral blood relatives

Exclusion criteria

Exclusion criteria: Patients who were unable to fully cooperate with the investigation

Design outcomes

Secondary

MeasureTime frame
Corneal diameter;RNFL;AL;perimetry;

Primary

MeasureTime frame
Gene mutation;Intraocular Pressure;Cup-to-disc ratio;Developmental malformation;

Countries

China

Contacts

Public ContactWenyi Guo

Shanghai Ninth Peiple's Hospital, Shanghai Jiao Tong University School of Medicine

wyguo9h@163.com+86 159 0082 3766

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026