The role of perinatal stress in simplex retinitis pigmentosa: evidence from surveys in Australia and the United States
2001
Abstract Background: In experimental models of several forms of human retinitis pigmentosa (RP) the dystrophy begins in the neonatal period, during a “critical period” in which photoreceptors are sensitive to hypoxia. We performed a study to test whether perinatal stress is associated with human RP, particularly in simplex (nonfamilial) cases. Methods: Two surveys were carried out in 1999. In one, Australians with RP were surveyed for information on whether they had experienced stress at birth and whether any members of their family had RP. In the other, the diagnostic type and inheritance patterns of a group of patients with RP seen at a university-affiliated eye institute in Los Angeles between 1997 and 1999 were established as part of their clinical assessment. In neither cohort was the RP part of a syndrome. Results: After entry criteria were applied, there were 293 cases (of a total of 446 replies) available for analysis from the Australian survey and 119 cases (after exclusion of 229 cases with incomplete data) from the US survey. A total of 52.2% and 53.8% of the cases respectively were simplex. Perinatal stress was reported by about 15% of the respondents with familial RP (15.0% in the Australian cohort and 14.5% in the US cohort), compared with 30% of those with simplex RP (27.4% and 29.7% respectively), a significant difference ( p x 2 test, p = 0.01). In the US cohort no single form of stress was significantly related to simplex RP. Interpretation: Our findings support the hypothesis that perinatal stress is associated with simplex RP in a minority of cases. Larger cohorts need to be studied to test whether perinatal stress can interact with predisposing genes in the genesis of some forms of RP.
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