Genetic studies do not support the view that schizophrenia, psychotic mood disorders and schizoaffective disorder are distinct etiological entities, but rather the evidence suggests the existence of common inherited vulnerability that increases the risks for all these syndromes. Some susceptibility pathways may be specific for schizophrenia, others for bipolar disorder, and yet other mechanisms and genes may confer risk for mixed schizophrenic and affective [or mood disorder] psychoses, but there is no support from genetics for the view that these are distinct disorders with distinct etiologies and pathogenesis. Laboratory studies of putative endophenotypes, brain imaging studies, and post mortem studies shed little additional light on the validity of the schizoaffective disorder diagnosis, as most studies combine subjects with different chronic psychoses in comparison to healthy subjects. Viewed broadly then, biological and environmental factors interact with a persons genes in ways which may increase or decrease the risk for developing schizoaffective disorder; exactly how this happens (the biological mechanism) is not yet known. Schizophrenia spectrum disorders, of which schizoaffective disorder is a part, have been increasingly linked to advanced paternal age at the time of conception, a known cause of genetic mutations. The physiology of people diagnosed with schizoaffective disorder appears to be similar, but not identical, to that of those diagnosed with schizophrenia and bipolar disorder; however, human neurophysiological function in normal brain and mental disorder syndromes is not fully understood.While there are various medications and treatment options for those with schizoaffective disorder, this disorder can affect a person for their entire lifespan.
1988: 10 families worldwide were identified as having CRV (now known as RVCL or RVCL-S)
1991: Related disease reported, HERNS (Hereditary Endiotheliopathy with Retinopathy, Nephropathy and Stroke – UCLA
1998: Related disease reported, HRV (Hereditary Retinal Vasculopathy) – Leiden University, Netherlands
2001: Localized to Chromosome 3. 2007: The specific genetic defect in all of these families was discovered in a single gene called TREX1 on chromosome 3. 2008: Name changed to AD-RVCL Autosomal Dominant-Retinal Vasculopathy with Cerebral Leukodystrophy
2009: Testing for the disease available to persons 21 and older
2011: 20 families worldwide were identified as having CRV
2012: Obtained mouse models for further research and to test therapeutic agents
2021: At least 42 families and 200 patients worldwide are known to have RVCL (or RVCL-S). [1]
2021: Dr. Jonathan Miner of the University of Pennsylvania (Penn) initiates the second clinical trial for RVCL, in collaboration with Dr. Andria Ford of WashU. Miner also establishes an International Registry in collaboration with colleagues. References


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