Albinism & Iris Nodules Flashcards

1
Q

Describe Albinism

Pigmentation, Ocular symptoms: phorias, light sensitivity, rapid eye movement and vision

A
  • melanin pigment defect (no pigment in skin, hair, eyes)
  • Ocular Syptoms: crossed eyed (strabismus), light sensitivity (photophobia), rapid eye movement (nystagmus), vision problems and blindness
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2
Q

Which is NOT an ocular symptom of albinism?

A. Cross eye (strabismus)
B. Light sensitivity (photophobia)
C. Rapid eye movement (Nystagmus)
D.Vision Problems, functional blindness
E. Pupillary miosis
A

E. Pupillary miosis

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3
Q

What is the treatment for albinism?

A
  • relieve symptoms
  • protect skin and eyes from sun (sunscreen, sunglasses)
  • genetic testing and counseling
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4
Q

Describe Tyrosine Negative Oculocutaneous Albinism

Melanin production, iris color, VA, Photophobia, nystagmus?

A
  • unable to produce melanin (albino)
  • complete iris transillumination (pink iris)
  • decreased VA (>20/200)
  • Photophobia
  • pendicular, horizontal nystagmus
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5
Q

Describe Tyrosine Positive Oculocutaneous Albinism

Melanin production, iris color, VA, Photophobia, nystagmus?

A
  • patient produces melanin
  • fair normal complexion
  • blue, brown, variable transillumination
  • may/may not have decreased VA or nystagmus
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6
Q

What causes decreased VA in albinism?

A
  • abnormal crossing of temporal fibers in optic chiasm
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7
Q

Describe Ocular Albinism

what happen to Visual Field and why?, are female carriers affected?

A
  • Decreased visual field from affected peripheral RPE

- Female carriers, asympotomatic, normal VA, partial iris transillumination, macular stippling

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8
Q

Describe Koeppe iris nodules

Where is it located

A
  • small in size, at the pupil border
  • inflammation cell preciptitates
  • may be found in non-granulatomous uveitis
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9
Q

Describe busacca iris nodules

Where is it located, does nodule resolve when inflammation is treated

A
  • less common
  • on mid iris level surface
  • nodule resolves when inflammation is treated
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10
Q

Describe Lisch iris nodules

bilateral?, benign/malignant, color and shape of papule, does it affect vision?

A
  • small bilateral melanocytic hamartoma (benign tumor)
    clear, yellow-brown, oval-round, dome shaped papule that project on iris surface
  • typical does not affect vision
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11
Q

Describe Iris mamillations

bilateral?, does it cover anterior iris surface, symptoms?, effects on IOP?

A
  • unilateral
  • tiny regular spaced villiform (tiny nipple-like) elevations on iris lesions, with uniform height
  • overlies hyperpigmented iris
  • covers anterior surface of iris (partial/total)
  • asymptomatic, may increase IOP
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12
Q

Describe Brushfield spots

What syndrome is it often associated with

A
  • Gray/brown spots on iris associated with Down’s Sybdrome (mongolism)
  • also seen in many normal childern
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13
Q

Define iridodialysis, iridodonesis and iris bombe

A
  • Iridodialysis: tear
  • Ididodonesis: tremors on iris upon movement, occurs in subluxation of lens
  • Iris Bombe: occurs in posterior synechia, increase fluid in posterior chamber causes forward bulge of peripheral iris
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14
Q

What is Iridology?

A
  • Belief that patterns, color and characteristics of iris can be examined to determine information about a patient’s systemic health.
  • divide iris into zones corresponding to specific part of human body
  • diagnostic tool, not for treatment
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15
Q

You have an small iris nodule located at the pupil border that may be caused by precipitates from an inflammatory cell or non-granulatomous uveitis. What type of iris nodule is this?

A. Koeppe
B. Busacca
C. Lisch
D. Iris Mamillations
E. Brushfield spots
A

A. Koeppe

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16
Q

You have an small iris nodule located at the mid iris surface. What type of iris nodule is this?

A. Koeppe
B. Busacca
C. Lisch
D. Iris Mamillations
E. Brushfield spots
A

B. Busacca

17
Q

You have an clear, yellow brown, dome shaped papules on the iris in both eyes. Vision is not affected. What type of iris nodule is this?

A. Koeppe
B. Busacca
C. Lisch
D. Iris Mamillations
E. Brushfield spots
A

C. Lisch

18
Q

You have an elevated iris lesions with uniform height covering a hyperpigmented iris in one eye. Patient is asymptomatic but you are worried about their IOP. What is your diagnosis?

A. Koeppe
B. Busacca
C. Lisch
D. Iris Mamillations
E. Brushfield spots
A

D. Iris Mamillations