Avellino corneal dystrophy

= Avellino Corneal Dystrophy = Avellino Corneal Dystrophy (ACD) is a rare genetic eye disorder characterized by the presence of granular deposits in the cornea, leading to visual impairment. This condition is part of a group of disorders known as corneal dystrophies, which affect the clarity and function of the cornea.

Etiology

Avellino Corneal Dystrophy is caused by mutations in the TGFBI gene, which provides instructions for making a protein involved in the maintenance of corneal structure. The specific mutation associated with ACD is typically a missense mutation that alters the protein's function, leading to the accumulation of abnormal deposits in the cornea.

Clinical Features

Patients with Avellino Corneal Dystrophy typically present with:

• Granular deposits: These are small, white, dot-like opacities in the cornea that can be seen upon slit-lamp examination.
• Recurrent corneal erosions: Patients may experience episodes of pain and discomfort due to the breakdown of the corneal epithelium.
• Visual impairment: As the deposits accumulate, they can interfere with vision, causing blurriness and glare.

Diagnosis

The diagnosis of Avellino Corneal Dystrophy is based on:

• Clinical examination: Using a slit-lamp to identify characteristic corneal deposits.
• Genetic testing: Confirming the presence of mutations in the TGFBI gene.
• Family history: As ACD is inherited in an autosomal dominant pattern, a family history of similar symptoms can support the diagnosis.

Differential Diagnosis

Avellino Corneal Dystrophy should be differentiated from other corneal dystrophies such as:

• Granular Corneal Dystrophy Type 1
• Lattice Corneal Dystrophy
• Macular Corneal Dystrophy

Management

Management of Avellino Corneal Dystrophy focuses on alleviating symptoms and preserving vision:

• Lubricating eye drops: To relieve discomfort from corneal erosions.
• Phototherapeutic keratectomy (PTK): A laser procedure to remove superficial corneal deposits and improve vision.
• Corneal transplantation: In severe cases, a corneal transplant may be necessary to restore vision.

Prognosis

The prognosis for individuals with Avellino Corneal Dystrophy varies. While some patients may experience mild symptoms, others may have significant visual impairment requiring surgical intervention. Regular follow-up with an ophthalmologist is essential to monitor disease progression and manage complications.

Research and Future Directions

Ongoing research aims to better understand the pathophysiology of Avellino Corneal Dystrophy and develop targeted therapies. Gene therapy and novel pharmacological approaches are areas of active investigation.

See Also

• Corneal Dystrophy
• TGFBI
• Genetic Eye Disorders
• [1] Weiss JS, M ller HU, Aldave AJ, et al. IC3D classification of corneal dystrophies edition 2. Cornea. 2015;34(2):117-159.
• [2] Afshari NA, Mullins R, Stone EM, et al. Avellino corneal dystrophy: a review of the role of transforming growth factor beta-induced protein in its pathogenesis. Cornea. 2001;20(4):377-388.

NIH genetic and rare disease info

• NIH info on Avellino corneal dystrophy

Avellino corneal dystrophy is a rare disease.