Reis–Bucklers corneal dystrophy

Reis–Bucklers corneal dystrophy (RBCD) is a rare, autosomal dominant genetic disorder affecting the cornea. It is characterized by the development of bilateral, symmetric, reticular opacities in the cornea, leading to recurrent corneal erosions, pain, and eventually, a decrease in visual acuity. This condition is classified under the broader category of corneal dystrophies, which are a group of inherited eye disorders where abnormal material accumulates in the cornea, the clear outer layer of the eye.

Etiology and Genetics

RBCD is caused by mutations in the TGFBI gene, which encodes for transforming growth factor-beta-induced protein. This protein plays a crucial role in the development, maintenance, and repair of the cornea. Mutations in the TGFBI gene lead to the production of abnormal protein, which accumulates in the cornea and disrupts its normal architecture and function. Being an autosomal dominant disorder, a single copy of the mutated gene inherited from an affected parent is sufficient to cause the disease.

Clinical Features

The onset of RBCD typically occurs in the first or second decade of life. Early symptoms include episodes of pain, tearing, and sensitivity to light due to recurrent corneal erosions. Over time, the erosions lead to the development of characteristic reticular (net-like) opacities in the cornea, which can significantly impair vision. The severity of visual impairment varies among individuals and can progress to significant vision loss.

Diagnosis

Diagnosis of RBCD is primarily based on clinical examination, including a detailed patient history and slit-lamp examination of the cornea. The distinctive appearance of the corneal opacities usually allows for a straightforward diagnosis. Genetic testing can confirm the diagnosis by identifying mutations in the TGFBI gene.

Treatment

Treatment of RBCD focuses on managing symptoms and preventing progression of the disease. In the early stages, lubricating eye drops and ointments can be used to alleviate discomfort from corneal erosions. In more severe cases, or when vision is significantly affected, surgical options may be considered. These can include phototherapeutic keratectomy (PTK), which uses laser technology to remove the abnormal corneal tissue, or corneal transplantation in cases where the cornea is extensively damaged.

Prognosis

The prognosis for individuals with RBCD varies. While the condition can significantly affect quality of life due to recurrent pain and vision loss, advances in treatment, especially surgical interventions, have improved outcomes. Early diagnosis and management are crucial in preserving vision and reducing the impact of the disease.