The occurrence of the Sturge-Weber syndrome with other congenital disorders except glaucoma and another of the phacomatoses is rare. With these exceptions, coincidence of this syndrome with other inherited diseases is usually considered to be based on chance occurrence.1
Retinitis pigmentosa associated with labyrinthine deafness (Usher's syndrome) is now believed to be transmitted as a simple recessive trait.1
The purpose of this communication is to report a case of complete Sturge-Weber syndrome associated with Usher's syndrome, retinitis pigmentosa with deafness.
Report of Case
—This 28-year-old white man was first seen at the Wilmer Eye Clinic emergency room because of pain and decreased vision in his right eye. The patient's mother stated that vision in his right eye had always been poor. About five years prior to this visit, his right eye became red, had itched and burned intermittently. It remained red and inflamed for some months,
BERKOW JW. Retinitis Pigmentosa Associated With Sturge-Weber Syndrome. Arch Ophthalmol. 1966;75(1):72–76. doi:https://doi.org/10.1001/archopht.1966.00970050074014
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: