This 19 year old man experienced periodic high fever as a child. He had no difficulties with his vision until age 19 when some abnormal pigmentation was incidentally discovered or routine fundus examination.

The clinical features favoring the diagnosis of retinitis pigmentosa with anisocytosis include: childhood onset periodic fever; mild anemia; anisocytosis on peripheral blood smear; night blindness and constricted visual fields as his earliest visual symptoms; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT; and, normally sighted parents.