Abstract: Corneal dystrophies encompass a group of inherited disorders affecting the cornea’s structure and function. This article delves into anterior corneal dystrophies, exploring their etiology, clinical manifestations, diagnostic approaches, treatment modalities, and recent advancements.

Introduction: Anterior corneal dystrophies represent a subset of corneal dystrophies primarily affecting the corneal epithelium, Bowman’s layer, and anterior stroma. Understanding these conditions is crucial for accurate diagnosis and appropriate management.

Etiology and Pathogenesis: Anterior corneal dystrophies are typically inherited in an autosomal dominant manner, although sporadic cases may occur. Mutations in specific genes, such as the TGFBI gene, have been implicated in various anterior corneal dystrophies, leading to abnormal protein deposition within the corneal layers. (Source: National Institutes of Health – TGFBI Gene (nih.gov))

Clinical Presentation: Clinical manifestations of anterior corneal dystrophies vary depending on the specific subtype but commonly include bilateral corneal opacities, recurrent corneal erosions, and visual disturbances. Patients may report symptoms such as foreign body sensation, photophobia, and blurred vision.

Diagnosis: Diagnosing anterior corneal dystrophies involves a comprehensive ophthalmic examination, including slit-lamp biomicroscopy, corneal topography, and optical coherence tomography (OCT). Additionally, genetic testing may be warranted to confirm the underlying genetic mutation. (Source: American Academy of Ophthalmology – Corneal Dystrophies (aao.org))

Treatment Strategies: Management of anterior corneal dystrophies focuses on alleviating symptoms, preserving visual function, and preventing disease progression. Therapeutic options may include lubricating eye drops, bandage contact lenses, phototherapeutic keratectomy (PTK), and, in severe cases, corneal transplantation. (Source: National Eye Institute – Corneal Dystrophies (nei.nih.gov))

Recent Advancements: Recent advancements in the treatment of anterior corneal dystrophies include the development of novel pharmacological agents targeting specific pathways involved in disease pathogenesis. Additionally, advancements in corneal imaging modalities, such as anterior segment OCT and in vivo confocal microscopy, have improved early detection and monitoring of disease progression.

Conclusion: Anterior corneal dystrophies pose significant challenges in diagnosis and management but advancements in genetic testing, imaging technologies, and treatment modalities offer promising avenues for improved patient care. By fostering collaboration between researchers, clinicians, and patients, we can continue to unravel the complexities of anterior corneal dystrophies and enhance our ability to effectively manage these sight-threatening conditions.