Purchase this article with an account.
K.A. Drenser, M.T. Trese, A. Capone; Pediatric Retinopathy DNA Registry . Invest. Ophthalmol. Vis. Sci. 2004;45(13):3529.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose: Pediatric retinal dystrophies have many overlapping clinical phenotypes. In addition to inherited diseases, other non–inherited diseases such as retinopathy of prematurity, may mimic well–described retinal dystrophies. Many of these retinopathies are uncommon and acquiring enough samples for meaningful analysis is often a rate–limiting step. Capturing a large patient volume and soliciting patient participation in a busy clinical setting is key to overcoming this obstacle. The goal of this study is to have a well–defined clinical examination, including ancillary testing, and collect DNA for identifying genetic markers that may differentiate similar vitreoretinal diseases or better predict risks for disease development and progression. Methods:An institutionally approved protocol was designed to enroll patients with pediatric retinal dystrophies. Patients with pediatric viteroretinopathies seen in our clinic or evaluated by our faculty in the hospital are solicited for study participation. Participants undergo an ophthalmic exam, pedigree analysis, fundus photos, FA, OCT, and electrophysiology testing. A DNA sample is obtained from blood to undergo immediate genetic analysis. The remaining DNA is frozen for use in future genetic testing. Results: Currently we are enrolling patients and have started genetic analysis of candidate genes in patients with Norrie’s disease, familial exudative vitreoretinopathy, Coat’s disease, persistent fetal vasculature syndrome, congenital retinoschisis, and retinopathy of prematurity. Conclusions:Pediatric retinal dystrophies are primarily clinically defined diseases that may overlapping phenotypes, making accurate diagnosis difficult. Furthermore, currently available genetic testing is minimal and often does not confirm a suspected diagnosis. We feel that a comprehensive databank that includes clinical examination and studies with genetic analysis will lead to improved diagnoses, improved screening and management, and eventually therapeutic options. Funding: Margaret Walters Fund
This PDF is available to Subscribers Only