Anatomy & Pathology Of Eye (Woodbury)

Question 1

Corneal Edema

Answer 1

• failure of corneal endothelium to pump aqueous humor out results in clouding of cornea
• Can treat with corneal transplant

Question 2

Alport Syndrome (cause, symptoms)

Answer 2

• mutation in type IV collagen production causes defective basement membranes.
• Affects kidneys, vision, hearing.
• adult onset
• Keratoconus: pointy cornea
• Anterior Lenticonus: pointy lens
• organ of corti BM cell death causes hearing loss
• Glomerular BM impact causes fibrosis & kidney failure

Question 3

Wilson’s Disease

Answer 3

-hepatolenticular degeneration: gene mutation alters Cu handling, causing Cu accumulation in liver and plasma.
Liver: cirhossis/fibrosis
Cornea: Kayser-Fleischer Ring (Cu deposits in cornea)
Basal Ganglia: putamen damage causes neurologic symptoms

Question 4

Glaucoma

Answer 4

-Caused by increased IOP from blockage/failure of reabsorption of aqueous humor. Unlike brain ICP, IOP cant compress anything so translated back through eye to compress optic n. (visible as CUPPING)
Open Angle: angle of uvea-sclera is unimpeded, but reabsorption impeded somehow (SLOW ONSET vision loss, treat w/t drugs)
Closed Angle: angle is impeded, reabsorption would be normal if unblock angle (ACUTE vision loss, surgical intervention needed)
-can also treat by stenting canal of schlemm

Question 5

Presbyopia

Answer 5

-Loss of accommodation with age as lens becomes less pliable (transition btwn far/close sight takes longer or impaired)

Question 6

Cataracts

Answer 6

• Many causes (age, trauma, radiation, genetics, diabetes)
• lens loses optical function, clouds, causing blindness
• Can treat with artificial lens implant

Question 7

Macular Degeneration

Answer 7

Lose macular vision (middle of retinal field, surrounding fovea), so vision becomes opposite of tunnel vision. Two types of age-related macular degeneration, dry and wet (separate slides)

Question 8

Dry Macular Degeneration

Answer 8

• More common- due to Drusen: debris accumulation between RPE and blood supply- RPE die, killing photoreceptors
• Slow progression
• No therapy

Question 9

Wet Macular Degeneration

Answer 9

• Due to abnormal angiogenesis- leak into RPE area, form scar, kill RPE, kill photoreceptors dependent on RPE.
• Rapid progression
• Treat with angiogenesis inhibitors

Question 10

Stargardt Disease

Answer 10

Cause: mutation in photoreceptors causes Vit A accumulation, passed to RPEs as they degrade membrane segments. RPEs die, resulting in photoreceptor death.

• Like macular degeneration, fovea affected first
• occurs in teens
• treat with stem cells to grow new RPE, but need constant replenishment

Question 11

Retinitis Pigmentosum

Answer 11

Affects rods of retina, causing night blindness and loss of peripheral vision (“tunnel vision”-opposite of macular degeneration)
-caused by mutation in any of genes involved in signal transduction

Question 12

Diabetic Retinopathy- Detached Retina

Answer 12

Damaged vessels leak causing retinal edema, cause angiogenesis, abnormal vessels burst, scarring, recreates developmental space by pulling retina and separating from RPE, RPE die unless reattached causing blindness
-different from wet macular degeneration since here bv are between retina and vitreous humor, not choroid and RPE.

Question 13

Central Retinal Artery Occlusion (CRAO)

Answer 13

See pale retina, no branches (caused by retinal a. occlusion). No hemmorhage, just lack of bloodflow.

Question 14

Central Retinal Vein Occlusion (CRVO)

Answer 14

See hemorrhage and edema on fundoscopy, “squashed tomato sign”-basically whole retina looks red from occluded/ruptured vein

Question 15

Retinoblastoma

Answer 15

• common malignant eye cancer in kids
• Due to mutation in Rb protein (Rb normally keeps E2F sequestered, E2F activates cell cycle so uncontrolled proliferation)
• Leukocoria: see white reflected from tumor on fundoscopy light reflex, unlike usual red.
• Unilateral: spontaneous mutation Bilateral: familial