Macular Corneal Dystrophy: An Updated Review.

Area of Science:

• Ophthalmology
• Genetics
• Corneal Diseases

Background:

• Macular Corneal Dystrophy (MCD) is an inherited condition.
• It stems from mutations in the CHST6 gene, impacting proteoglycan synthesis.
• This leads to abnormal glycosaminoglycan accumulation in the cornea.

Purpose of the Study:

• To describe the genetic basis, pathology, and management of Macular Corneal Dystrophy.
• To highlight the role of CHST6 gene mutations.
• To discuss current and future treatment strategies.

Main Methods:

• Review of clinical features and histopathology of Macular Corneal Dystrophy.
• Analysis of genetic mutations (CHST6 gene).
• Evaluation of keratoplasty outcomes and recurrence patterns.

Main Results:

• CHST6 gene mutations cause abnormal proteoglycan synthesis and GAG deposition.
• Histopathology reveals characteristic alcian blue positive deposits.
• Keratoplasty (full or lamellar) improves vision, with outcomes depending on patient factors.

Conclusions:

• Macular Corneal Dystrophy is characterized by corneal opacification due to GAG accumulation.
• Keratoplasty is the primary treatment for visual impairment.
• Gene therapy represents a promising future direction for MCD treatment.