Osteoporosis-Pseudoglioma Syndrome
Osteoporosis-pseudoglioma syndrome (OPPG) is an autosomal recessive disorder that affects vision and bones. Severe visual impairment, either at birth or noted in the first year of life is the most frequent presenting feature. Although the eye lesions appear tumor-like (hence the term pseudoglioma), they probably result from altered development of the blood vessels in the eye. Low bone density with resulting fractures and pain tend to appear in later childhood. These bone fractures, over time, can lead to deformity, pain, and difficulty in walking and standing. The bony changes resemble another genetic condition called osteogenesis imperfecta (OI), but the eye findings allow doctors to distinguish between the two. To our knowledge, treatments to prevent visual loss have been unsatisfactory. Bisphosphonate therapy is emerging as a potential way to increase bone mass, thereby decreasing the number and frequency of fractures and bone pain.
We previously localized the gene for OPPG to chromosome 11q13. Recently, we identified the responsible gene. The disease causing changes in many, but not all patients studied were found. Furthermore, some patients with OPPG do not appear to map to human chromosome 11, indicating the need for additional study. In the interim, physicians seeking assistance in making this diagnosis are welcome to contact us. We are performing mutation detection on a research basis. Additional resources that may be of value are listed below.
We are currently seeking additional individuals and families with OPPG to participate in our research. We would like to identify additional disease causing genetic changes and to study their direct consequences on bone. We would also like to determine whether there is another genetic locus that can cause OPPG in some individuals. We are therefore seeking:
* Blood samples for DNA analysis from affected patients and their families
* Quantitative bone density reports (e.g.DEXA) on patients and their relatives
* And tissue samples from patients undergoing surgical procedures
Studying the consequences of OPPG at the cellular, biophysical and protein levels may facilitate the development of novel therapeutic strategies.
If you are a patient, or have a patient with OPPG interested in participating in our research, please contact us. For sample submission instructions. We request that you complete the data collection form on OPPG and have the participant sign our consent form.
If you are a patient or family member interested in communicating with other families, please email Dr. Warman. Whenever new consenting family members contact us, emails (or phone numbers) will be exchanged. The Center for the Study of Genetic Bone and Joint Disorders does not monitor communications directly between families, and therefore cannot be responsible for the accuracy of information exchanged.
Additional information can be obtained through Online Mendelian Inheritance in Man, a database catalogue of human genes and genetic disorders edited by Victor A. McKusick and colleagues. The OMIM number for OPPG is 259770.
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