[Medical Q&A] What is retinitis pigmentosa?

Author: Peng Chunxia, ​​deputy chief physician, Beijing Children's Hospital, Capital Medical University

Reviewer: Li Li, Chief Physician, Beijing Children's Hospital, Capital Medical University

Retinitis pigmentosa (RP) is a complex spectrum of inherited retinal pigment membrane degeneration caused by gene mutation. It is mainly characterized by progressive retinal degeneration and dysfunction, mainly involving the retinal pigment layer (RPE) and photoreceptor cells. Clinically, it is characterized by night blindness, progressive visual field constriction and retinal osteocyte-like pigmentation.

Gene mutation is the root cause of retinitis pigmentosa. Without intervention treatment, the natural course of retinitis pigmentosa varies greatly. Some cases develop severe visual impairment in childhood, and if accompanied by myopia, hyperopia or astigmatism, they are often misdiagnosed as amblyopia. Some patients are asymptomatic until adulthood. The typical course of retinitis pigmentosa is gradual loss of peripheral visual field damage, manifested as centripetal visual field constriction. Most patients meet the criteria for legal blindness by the age of 40 due to constricted visual field.

Current treatments include: vitamin and nutritional supplements may be effective; retinal cell transplantation, retinal prosthesis implantation and gene therapy are all in the experimental stage.