Usher syndrome in Puerto Rico: a clinical and genetic study.
關鍵詞
抽象
OBJECTIVE
To evaluate patients with the Usher syn drome in Puerto Rico.
METHODS
Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis.
RESULTS
All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M.
CONCLUSIONS
Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.
