What causes pattern dystrophy?

What causes pattern dystrophy?

Pattern dystrophies are caused by mutations (or mistakes) in one of several genes, but they are all inherited in an autosomal dominant fashion. That means that someone with a pattern dystrophy has a 50 per cent chance of passing it on to their child, whether they are male or female.

What is Foveomacular Vitelliform dystrophy?

Background: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a condition that presents classically as bilateral, symmetrical, grayish-yellow, round or oval-shaped lesions within the macular area. These lesions are mildly elevated and are typically one third to one half disc diameter in size.

Is retinal dystrophy the same as retinitis pigmentosa?

Retinitis pigmentosa: It is the most commonly seen retinal dystrophy. RP is a progressive rod-cone disease with rods affected first and has a high level of clinical and genetic heterogeneity. The age of presentation and the prognosis depends on the type of inheritance.

What is RPE dystrophy?

Pattern dystrophy (PD) of the retinal pigment epithelium (RPE) refers to a heterogeneous group of dominantly inherited macular diseases characterized by the development of a variety of patterns of deposits of the yellow, orange, or gray pigment in the macular area (Figure 1).

What is a vitelliform lesion?

Adult-onset vitelliform maculopathy is a retinal disease characterized by round, yellowish deposits (acquired vitelliform lesions, or AVLs) found beneath the central retina or macula (Figure 1).

How common is Vitelliform dystrophy?

General Discussion. Best vitelliform macular dystrophy (BVMD) is a genetic form of macular degeneration (damage to a part of the eye called the macula) that occurs in about 1 in 10,000 individuals.

Is retinal dystrophy progressive?

Retinal dystrophies are a heterogeneous group of hereditary diseases that cause progressive and severe loss of vision by altering the anatomy and/or function of the retina. There is currently no cure, but research is being carried out to find ways of treating it in the coming years with gene and cell therapies.

What age does Stargardt disease start?

Stargardt disease is usually diagnosed in people under the age of 20. There is a late onset form of the disease which can begin in people over the age of 50.

What are the symptoms of Stargardt’s disease?

In Stargardt’s disease, there is a genetic defect that causes the photoreceptors of the eye to die. Vision loss begins slowly and then rapidly progresses, affecting central vision so severely that it causes an affected person to become legally blind while preserving peripheral vision.