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We are exploring Bietti's cyrstalline dystrophy to find out more information about the condition and why it is often misdiagnosed.

Bietti Crystalline Dystrophy is a malady of the eye in which numerous small, yellow or white crystal fatty deposits collect in the light-sensitive tissues that line the back of the retina. The deposits cause damage to the eye and result in a person experiencing progressive loss of vision.

People with this disorder will normally begin to notice vision issues during their teens or twenties. An individual may experience a diminishment of sharp vision (reduced visual acuity) and problems seeing in dimly lit conditions. Color vision impairment and loss of vision field can also occur.

The vision issues associated with Bietti Crystalline Dystrophy may get worse at Differing rates in each eye and the severity and progression of vision loss will be different with each person. Most people with this condition will be left legally blind by the time they enter their forties or fifties. Most affected with Bietti’s will retain some degree of sight, but it is usually limited or resigned to the center of the visual field, though it is often blurry and not correctable with glasses or contacts. Vision impairment that cannot be improved with the aid of corrective lenses is referred to as “low vision.”

How Common Is Bietti Crystalline Dystrophy?

According to information from the US National Library of Medicine, Bietti crystalline dystrophy occurs in 1 in 67,000 people around the world. The disorder happens more often in people of East Asian descent, particularly those of Japanese and Chinese lineage. Scientists suggest the disorder may be underdiagnosed due to the symptoms being so similar to other eye disorders affecting the retina.

Is The Disorder Due To Genetics?

The condition is caused by mutations in the CYP4V2 gene, which is responsible for instructions for making a member of the cytochrome P450 family of enzymes. These enzymes play an important role in the formation and breakdown of various molecules and chemicals within cells. The CYP4V2 enzyme is responsible for a multi-step process referred to as fatty acid oxidation, in which lipids are broken down and converted into energy. However, the specific function of the enzyme is not completely understood.

The genetic mutation responsible for Bietti crystalline dystrophy damages or eradicates the function of the enzyme and it is thought to effect lipid breakdown. It is not currently known how these enzymes lead to the specific signs and symptoms associated with Bietti crystalline dystrophy. For reasons that are unknown, the severity of the signs and symptoms associated with the disorder will differ in people with the same CYP4V2 gene mutation.

Bietti Crystalline Syndrome: How Is It inherited?

This abnormality is inherited in an autosomal recessive gene pattern, which means both copies of the gene in question have mutations. The parents of a child with an autosomal recessive condition will each carry one copy of a mutated gene and typically they don’t have signs and symptoms of the disorder.

Signs And Symptoms Of Bietti Crystalline Dystrophy

There are seven main signs and symptoms associated with this condition and these include the following:

  • Crystals in the cornea
  • Night blindness (progressive)
  • Constriction of a person’s visual field
  • Yellow shiny deposits on the retina
  • Retinal atrophy (progressive)
  • Atrophy of the choricapillaries (progressive)
  • Atrophy of the back layers of the eyeball (progressive)
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