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Impressum
International multi-center study to identify susceptibility genes for familial anterior uveitis
1Becker M. D., 2Smith J. R., 3Reveille J. D., 6Levinson R. D., 2Rosenbaum J. T., 2Martin T. M.
1Universitäts- Augenklinik Heidelberg, 2Casey Eye Institute, Oregon Health & Science University, Portland, OR; 3University of Texas, Houston; 4Spondylitis Association of America, Sherman Oaks, CA; 5University of British Columbia, Vancouver; 6Jules Stein Eye Institute, University of California, Los Angeles
Purpose: Acute anterior uveitis (AAU) is the most common form
of uveitis not attributed to trauma and has been documented to occur in
families. The aim of this study was to identify families with AAU to create
a basis to study genetic contributions to disease susceptibility.
Methods: Patients were collected in a collaborative effort between
researchers in the U.S., Germany and Canada. They must meet a strict disease
phenotype to be included in the analysis: sudden onset, anterior, unilateral,
and episodic uveitis. Participants were enrolled after giving informed
consent and agreed to release relevant ophthalmological medical records
and were interviewed by questionnaire about their disease history. A blood
sample for DNA analysis and HLA-B27 genotyping was also obtained.
Results: Members of 27 families with at least 2 affected members
were analyzed. From these families, there were 65 affected individuals
identified (32 males and 33 females). Out of 149 first-degree relatives
of 28 probands, 37 were also affected. Medical histories were completed
on 41 of the 65 affected patients. Of these, 32 were HLA-B27 positive,
2 were HLA-B27 negative, and 12 were of unknown status. The self-reported
average age of uveitis onset was 35 years.
Conclusions: Using very well defined phenotypic criteria, a collection
of families with AAU has been identified in this multi-center study. The
extremely high genetic correlation between AAU and HLA-B27 was confirmed.
In contrast to sporadic AAU, observations from this study suggest that
familial AAU does not have a gender bias. Multiple factors undoubtedly
play a role in determining susceptibility to AAU. It is anticipated that
future gene-mapping studies on these families will provide new insight
into this disease.
Supported by NIH, NEI EY13139-01