Affiliations: Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA
Note: [] Corresponding author: Emil Anthony T. Say, MD, 840 Walnut St, Ste 1440, Philadelphia, PA 19107, USA. Tel.: +1 215 928 3105; Fax: +1 215 928 1140; E-mail: [email protected]
Abstract: Hereditary pediatric retinal diseases are a diverse group of disorders with pathologies affecting different cellular structures or retinal development. Many can mimic typical pediatric retinal disease such as retinopathy of prematurity, vitreous hemorrhage, retinal detachment and cystoid macular edema. Multisystem involvement is frequently seen in hereditary pediatric retinal disease. A thorough history coupled with a good physical examination can oftentimes lead the ophthalmologist or pediatrician to the correct genetic test and correct diagnosis. In some instances, evaluation of parents or siblings may be required to determine familial involvement when the history is inconclusive or insufficient and clinical suspicion is high.
Keywords: Hereditary retinal disease, pediatric retina, color blindness, night blindness, retinal vascular disease, retinal detachment, retinoschisis, vitreoretinopathy, albinism
