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

Meesmans,

AD,

KRT3 12q13,

PAS positive granules (peculiar substance),

frequent mitoses and thickened basement membrane,

mild irritation and slight decrease in Va

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

imcomplete

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

incomplete

Question 7

What is the Dx?

Inheritance?

Gene?

Presentation?

Recurrence in graft?

Answer 7

incomplete

Question 8

Diagnosis?

Answer 8

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)