Cornea: 11. Systemic Disorders

Question 0

alpha-L-iduronidase

Answer 0

mutated gene in Hurler, Scheie, and Hurler-Scheie syndrome

Question 1

bone marrow transplant

Answer 1

may be curative in many mucopolysaccharidoses

Question 2

LCAT deficiency, Fish eye disease, Tangier disease

Answer 2

three hypolipoproteinemias that affect the cornea

Question 3

Tangier disease

Answer 3

complete absence of serum alpha lipoproteins

Question 4

Fish eye disease

Answer 4

like LCAT deficiency but corneal clouding is visually significant

Question 5

Tangier disease

Answer 5

orange tonsils, enlarged lymphatic organs, corneal clouding without arcs

Question 6

alpha-galactosidase A

Answer 6

deficient enzyme in Fabry disease

Question 7

mucolipidoses

Answer 7

diseases that combine features of sphingolipidoses with mucopolysaccharidoses

Question 8

lysosomal hydrolases

Answer 8

this group of disorders can be diagnosed by elevated levels of these in the plasma

Question 9

transport of cystine across the lysosomal membrane

Answer 9

this function is defective in cystinosis

Question 10

tyrosinemia

Answer 10

disorder characterized by recurrent painful pseudo dendrites as well as hyperkeratotic palms and soles as well as cognitive impairment (due to lysosome release)

Question 11

ascorbate

Answer 11

may help reduce arthropathy in alkaptonuria

Question 12

ecchymotic papules

Answer 12

lid findings in primary systemic amyloidoses

Question 13

veils

Answer 13

vitreous findings in primary systemic amyloidoses

Question 14

ophthalmoplegia

Answer 14

result of orbital involvement in systemic amyloidoses

Question 15

crystalline deposits

Answer 15

corneal finding in paraproteinemias

Question 16

lysyl hydroxylase

Answer 16

deficient enzyme in many cases of Ehlers-Danlos type VI

Question 17

porphyria cutanea tarda

Answer 17

systemic disorder that causes the appearance of sun-exposure induced OCP

Question 18

liver biopsy

Answer 18

definitive test in assessing for Wilson’s disease