Cornea Pics

Question 1

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 1

Gelatinous Drop Like Dystrophy.

Subepithelial amyloid.

AR, TACSTD2 gene, Chr 1

Onset 1st-2nd decade, over time the patients will have pain, photophobia, irritation tearing, mulberry–> kumquat appearance.

Question 2

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 2

incomplete

Question 3

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 3

incomplete

Question 4

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 4

Meesmans,

AD,

KRT3 12q13,

PAS positive granules (peculiar substance),

frequent mitoses and thickened basement membrane,

mild irritation and slight decrease in Va

Question 5

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 5

incomplete

Question 6

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 6

imcomplete

Question 7

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 7

incomplete

Question 8

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 8

incomplete

Question 9

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 9

incomplete

Question 10

Diagnosis?

Answer 10

transthyretin amyloidosis

An example of primary systemic amyloid.

AD, 18q11 TTR gene.

Can cause ophthalmoplegia, vitreous clouding, iris irregularities, glaucoma.

Affects peripheral nerves and organs (cardiac, liver)