![]() Lower erythrocyte DHA was also observed in RP patients. Sperm DHA concentration was positively correlated to sperm motility, to sperm count, and to the desmosterol-to-cholesterol ratio. Patients with Usher syndrome type II exhibited the most pronounced reductions of DHA in sperm. The sperm of patients with RP had a much lower DHA concentration, a lower desmosterol-to-cholesterol ratio, reduced motility, abnormal structure, and lower sperm counts compared with that in normal subjects. (1997) studied the lipid composition of erythrocytes and sperm in 26 patients with RP and in 8 healthy men. Thus, the DNA-damaging effects of chemotherapy may have had particularly deleterious consequences for this patient.īased on the observation that both sperm and retina are rich in docosahexaenoic acid (DHA) and that blood levels of DHA in RP patients are less than normal, Connor et al. Lymphoblastoid cells from dominantly inherited RP showed no hypersensitivity. (1984) claimed that lymphoid and fibroblast cell lines derived from patients with Usher syndrome are hypersensitive to DNA-damaging agents such as x-ray. ![]() (1992) described a patient with presumably type II Usher syndrome who had apparent acceleration of retinitis pigmentosa following cytotoxic chemotherapy for non-Hodgkin lymphoma. ![]() (1998) characterized type IIa Usher syndrome as showing moderate to severe sensorineural hearing loss as well as progressive retinitis pigmentosa.īlanchet et al. Usher syndrome, type IIC, GPR98/PDZD7 digenicĮudy et al. Usher syndrome, type 2C, GPR98/PDZD7 digenic ![]()
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