A group of inherited disorders in which abnormalities of the photoreceptors (the rods and cones) of the retina lead to progressive visual loss. Abbreviated RP. People with RP first experience defective dark adaptation (night blindness), then constriction of the visual field (tunnel vision), and eventually, late in the course of the disease, loss of central vision. RP may be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner or as a mitochondrial disorder. RP can occur alone or as part of a syndrome involving other abnormalities. More than 30 different genes are known to cause nonsyndromic RP (RP alone). Usher syndrome, which is RP and deafness, is a form of syndromic RP.
- Retinitis pigmentosa and congenital deafness
(Also called Usher syndrome.) A genetic disorder characterized by hearing impairment and an eye disorder called retinitis pigmentosa in which vision worsens over time. Some people with Usher syndrome also have balance problems. It is the most common disease that compromises both hearing and vision. More than half of all deaf-blind people have Usher syndrome. […]
hereditary and sporadic. The inherited form of RB is usually present at birth as multiple tumors in both eyes. It is due to the transmission of an RB1 germline mutation followed by an acquired somatic RB1 mutation. The sporadic form of retinoblastoma has later onset and typically leads to a single tumor in only one […]
- Retinoic acid syndrome
A disorder due to the cancer treatment retinoic acid characterized by fever, difficulty breathing, chest pain, lung infiltrates, fluid around the lungs and heart, and hypoxia (lack of oxygen) that develops in some patients receiving retinoic acid therapy. It usually develops within 30 days of treatment. Steroids and chemotherapy can be used to treat retinoic […]
1. Vitamin A (retinol) or a naturally occurring or synthetic substance chemically related to it. (Retinoid literally means “like retinol.”) 2. In ophthalmology, resembling the retina.
An animal form of Vitamin A. Retinol is converted from retinyl palmitate which is found in beef, chicken liver, eggs, fish liver oils, and dairy products including whole milk, whole mild yogurt and cottage cheese, butter, and cheese. (The plant based Vitamin A source is beta-carotene.) Vitamin A is essential to vision, especially night vision, […]