Combined granular-lattice ('Avellino') corneal dystrophy

Area of Science:

• Ophthalmology
• Corneal Diseases
• Histopathology

Background:

• A previous report detailed 4 cases of unilateral keratoplasty for presumed granular dystrophy.
• Pathologic examination revealed combined granular and lattice dystrophy in these corneal buttons.
• The patients originated from families with ties to Avellino, Italy.

Observation:

• This study examined 4 corneas with combined granular-lattice dystrophy, adding to the 12 previously reported cases.
• Two women underwent bilateral penetrating keratoplasty for clinically diagnosed Reis-Bücklers or granular dystrophy.
• Histopathological analysis utilized conventional and special histochemical stains.

Findings:

• All 4 corneas exhibited histopathologic features of both granular and lattice dystrophy.
• Clinical signs include anterior stromal deposits, mid-to-posterior stromal lattice lesions, and anterior stromal haze.
• Lattice lesions were larger in diameter compared to lattice dystrophy type I.

Implications:

• Combined granular-lattice dystrophy presents unique clinical and histopathological characteristics.
• Advances in understanding the genetics of combined granular-lattice dystrophy are significant.
• This research contributes to elucidating the common molecular origins of several inherited corneal dystrophies.