Corneal Dystrophies

Question 1

Mnemonic for corneal dystrophies

Answer 1

Marilyn - macular dystrophy (ar=autosomal recessive)
Monroe - mucopolysaccharide
Always - Alcian blue stain
Gets - Granular dystrophy (AD) Chr 5 BigH3 gene, aka TGFBI
Her - Hyaline
Man in - Masson Trichrome stain
Los - lattice dystrophy (AD) Chr 5 BigH3, aka TGFBI
Angeles - Amyloid
California - Congo red, crystal violet

Question 2

Which corneal dystrophies are associated with mutations in TGFBI?

Answer 2

Reis-Buckler
Think-Behnke
Lattice, types 1 & 3
Granular, types 1 & 2
Epithelial basement membrane dystrophy(minority of cases)

Question 3

What are the features of macular dystrophy?

Answer 3

Most severe vision loss
Autosomal recessive
Mutation in CHST6 (carbohydrate sulfotransferase) on chromosome 16

Clinical course: diffuse, fine, superficial clouding in central stroma that extends to periphery and involves full thickness of cornea by second decade of life, can see severe photophobia and recurrent erosions

3 immunotypes based on reactivity to sulfated keratan sulfate

Accumulation of GAGs on histopath, stain with alcian blue