Bietti’s Crystalline Dystrophy (BCD)

Bietti’s Crystalline Dystrophy (BCD) is a rare and progressive form of corneal dystrophy that is characterized by the accumulation of crystalline deposits on the corneal endothelium. The condition, which was first described by Italian ophthalmologist Enrico Bietti in 1935, affects both eyes and can lead to decreased visual acuity and progressive vision loss. BCD is an autosomal recessive disease, meaning it is caused by a mutation in both copies of a gene. As of 2020, there are no known cures for BCD, however, treatments and management strategies can help to slow the progression of the condition and reduce the symptoms.

When BCD occurs, the deposits consist of amorphous, granular, and crystalline material within the corneal stroma. These deposits accumulate and can lead to corneal edema and decreased vision. The deposits can also cause a decrease in the number of functioning endothelial cells, which can lead to further vision loss. In addition, some patients may experience pain, redness, and sensitivity to light.

Eye Exams for Bietti’s Crystalline Dystrophy (BCD)

There are a number of exams that can detect BCD. These exams include corneal endothelial cell count, slit-lamp biomicroscopy, corneal topography, and specular microscopy. Corneal endothelial cell count is used to measure the number of functioning endothelial cells and can help to determine the severity of the condition. Slit-lamp biomicroscopy is an examination of the corneal surface with a magnified microscope. Corneal topography is an imaging technique that can help to measure the curvature of the cornea and detect the presence of deposits. Specular microscopy is an imaging technique that can help to detect endothelial cell loss and can help to determine the extent of the corneal edema.

What causes Bietti’s Crystalline Dystrophy (BCD)?

The exact cause of BCD is unknown, however, it is believed to be caused by a mutation in the CTC1 gene. This gene provides instructions for making a protein that is involved in DNA replication, repair, and recombination. Mutations in the CTC1 gene lead to the production of an abnormal protein that does not function properly. This abnormal protein accumulates in the corneal endothelium, leading to the formation of the crystalline deposits.

How to treat Bietti’s Crystalline Dystrophy (BCD)

Currently, there is no known cure for BCD. However, there are a number of treatment and management strategies that can be used to slow the progression of the condition and reduce symptoms. These strategies include the use of topical lubricants, artificial tears, and steroid eye drops. In addition, a corneal transplant can be used to replace the damaged cornea with healthy tissue.

Bietti’s Crystalline Dystrophy (BCD) Research

Research into BCD is ongoing. In recent years, there have been a number of studies that have focused on understanding the genetic basis of the condition, as well as identifying potential treatments. For example, one study found that dietary supplementation with the antioxidant N-acetylcysteine could reduce the formation of crystalline deposits in the cornea. In addition, researchers are also exploring the potential of gene therapy to treat the condition.

BCD is a rare and progressive disorder that can lead to decreased visual acuity and progressive vision loss. Currently, there is no known cure for the condition, however, treatments and management strategies can help to slow its progression and reduce symptoms. In addition, research into the genetic basis of the condition and potential treatments is ongoing.