Thiel–Behnke dystrophy

Thiel-Behnke dystrophy is a rare genetic disorder that affects the cornea, the clear, dome-shaped surface of the eye that covers the iris, pupil, and anterior chamber.

Characteristics

It is characterized by the presence of small, white, opaque spots on the cornea, known as Thiel-Behnke corneal dystrophy (TBCD) or anterior band dystrophy. The disorder is caused by mutations in the keratoepithelin (BIGH3) gene located on chromosome 5q31. The Thiel-Behnke dystrophy is a form of anterior corneal dystrophy that is inherited in an autosomal dominant pattern.

Clinical features

The condition is usually diagnosed in early childhood or adolescence and most commonly affects both eyes. The main symptom of Thiel-Behnke dystrophy is the presence of small, white, opaque spots on the cornea that can cause visual disturbances such as glare, halos, and reduced visual acuity. The disorder can also lead to corneal erosions, which are painful and can cause infection.

Diagnosis

The diagnosis of Thiel-Behnke dystrophy is usually made based on the characteristic appearance of the cornea, along with a family history of the disorder. The diagnosis can be confirmed by genetic testing.

Treatment

There is no specific treatment for Thiel-Behnke dystrophy. The goal of treatment is to manage symptoms and prevent complications such as corneal erosions and infections. This may include the use of artificial tears, antibiotics, and other medications to reduce pain and inflammation. In cases where the disorder causes significant visual disturbances or complications, surgery may be recommended.

Summary

Thiel-Behnke dystrophy is a rare genetic disorder that affects the cornea and is caused by mutations in the keratoepithelin gene. The disorder is characterized by the presence of small, white, opaque spots on the cornea that can cause visual disturbances and other symptoms. There is no specific treatment for Thiel-Behnke dystrophy, but management and prevention of complications are the main goal of treatment. Genetic counseling is recommended for individuals with Thiel-Behnke dystrophy and their families.

NIH genetic and rare disease info

• NIH info on Thiel–Behnke dystrophy

Thiel–Behnke dystrophy is a rare disease.