RLBP1 Gene

Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination.

Individuals with fundus albipunctatus experience night blindness from an early age. In particular, they have delayed dark adaptation, which means they have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. It often takes hours for adaptation to occur. Their vision in bright light is usually normal.

The flecks are especially abundant near the outer edge (the periphery) of the retina. Their density varies among affected individuals; some people have numerous flecks that overlap, while others have fewer. For unknown reasons, the flecks get smaller or fade with age in some affected individuals, although night vision does not improve.

While fundus albipunctatus typically does not worsen (progress) over time, some individuals with the condition develop other eye conditions, such as breakdown of the central region of the retina known as the macula (macular degeneration) with loss of specialized light receptor cells called cones, which can affect vision in bright light.

Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind.

The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.

Less commonly, retinitis pigmentosa occurs as part of syndromes that affect other organs and tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP).