Cataracts

Question 1

Oil-droplet

Answer 1

Galactosemia (AR): defect galactose 1 P-uridyl transferase

-Tx: eliminate lactose from diet

Question 2

Mannosidosis

Answer 2

alpha-mannosidase def

• hurler like syndrome
• posterior spoke-like opacity of lens

Question 3

Fabry’s disease

Answer 3

alpha galactosidase A def

• cornea verticillata
• spoke like cataract
• x linked

Question 4

Lowe’s syndrome

Answer 4

X linked

• defect of amino acid metabolism
• 100% have congenital cataract (retained lens nuclei)
• female carriers have white punctate cortical opacities and subcapsular plaque-like opacities
• renal tubular acidosis, MR, muscular hypotonia

Question 5

Alport’s syndrome

Answer 5

• X linked

- Triad of anterior lenticonus, deafness, hemorrhagic nephropathy/renal failure

Question 6

Hallerman-Streiff syndrome

Answer 6

• hypoplasia of mandible with birdlike facies
• mature cataract shortly after birth
• glaucoma

Question 7

Snowflake cataract

Answer 7

Down’s syndrome

Question 8

DDx of cataracts AND glaucoma

Answer 8

• Lowe’s syndrome
• Rubella
• Hallerman-Streiff syndrome