Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom

NCT ID: NCT03009188

Last Updated: 2017-01-04

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 9 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-07-31
• Study Completion Date: 2016-12-31

Brief Summary

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, characterized by anterior segment abnormalities and systemic abnormalities. To date,two major genes, forkhead box C1 (FOXC1) on chromosome 6p25 and pituitary homeobox 2 (PITX2) on chromosome 4q25, have been demonstrated to cause ARS. In this study, we performed complete ophthalmologic examinations and analysis of FOXC1 and PITX2 of a Chinese family with ARS.

Detailed Description

Two genetions of a Chinese family with ARS were recruited to Aier Eye Hospital of Changsha.

Clinical evaluations: We performed full ophthalmologic examinations of all subjects, including: visual acuity, intraocular pressure measurements (Goldman), slit lamp, anterior segment photography, visual field test (Humphrey 750, Carl Zeiss, Germany), Anterior segment OCT (Carl Zeiss, Germany). If the refractive medium is clear, we also performed funduscopy, gonioscopic and retinal nerve fiber layer (RNFL) thickness measurements (Carl Zeiss, Germany).

Mutation analysis: About 2 ml of venous blood sampled from each subject and collected in Vacutainer tubes (Sanjiu Medical Technology Co., Ltd., Liuyang, China) containing EDTA. Genomic DNA was extracted from each blood using a genomic DNA mini kit for blood (Life Technologies), All coding exons, with flanking intronic regions, of FOXC1 and PITX2 were amplified using PCR with primers. The amplifed DNA was purifed by agarose gel electrophoresis and sequenced on a 3730/3700xl automated DNA sequencer (Applied Biosystems).

Conditions

Genetic Findings in a Chinese Family With ARS

Study Design

• Observational Model Type: FAMILY_BASED

Study Groups

Pedigree of the family with ARS

Nine members of the same family with ARS

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• a Chinese family with ARS

Exclusion Criteria

-

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Aier Eye Hospital, Changsha

OTHER

Sponsor Role: lead

Responsible Party

Kuanshu Li

MD-candidate

Responsibility Role: PRINCIPAL_INVESTIGATOR

Other Identifiers

AierEYC

Identifier Type: -

Identifier Source: org_study_id