Bietti's crystalline dystrophy
Bietti's Crystalline Dystrophy
Bietti's Crystalline Dystrophy (pronounced bee-ET-eez kris-TAL-in dis-TROH-fee) is a rare, inherited eye disorder named after the Italian ophthalmologist, G.B. Bietti, who first described it in 1937.
Etymology
The term "Bietti's Crystalline Dystrophy" is derived from the name of the Italian ophthalmologist, G.B. Bietti, and the Greek word "dystrophy", which means "bad nourishment". The term "crystalline" refers to the characteristic crystal-like deposits that form in the retina and other parts of the eye in individuals with this condition.
Definition
Bietti's Crystalline Dystrophy is a genetic disorder that causes progressive vision loss, typically resulting in blindness. This condition is characterized by tiny, crystal-like deposits in the retina, the light-sensitive tissue at the back of the eye, and in the corneal limbus, the border of the cornea and the sclera (the white part of the eye).
Symptoms
The symptoms of Bietti's Crystalline Dystrophy typically begin to appear in young adulthood and may include:
- Nyctalopia (night blindness)
- Photophobia (light sensitivity)
- Progressive vision loss
- Blindness
Causes
Bietti's Crystalline Dystrophy is caused by mutations in the CYP4V2 gene. This gene provides instructions for making an enzyme that is involved in the metabolism of fats in the body. The exact role of this enzyme in the eye is not well understood.
Diagnosis
Diagnosis of Bietti's Crystalline Dystrophy is based on a thorough clinical evaluation, detailed patient history, and specialized tests such as Electroretinography (ERG) and Optical Coherence Tomography (OCT).
Treatment
There is currently no cure for Bietti's Crystalline Dystrophy. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and slowing the progression of the disease.
See Also
External links
- Medical encyclopedia article on Bietti's crystalline dystrophy
- Wikipedia's article - Bietti's crystalline dystrophy
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