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Medical Genetics > Vision > Flashcards

Vision Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

outermost layer of eye?

A

cornea

followed by pupil then lens

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2
Q

center of the retina = ?

A

fovea –> resp for sharp central vision

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3
Q

what makes up anterior segment?

A

cornea, lens, iris

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4
Q

What makes up the posterior segment?

A

vitreous, retina, choroid, optic nerve

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5
Q

What is anophthalmia?

A

absence of globe

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6
Q

What is coloboma?

A

absent tissue bc embryonic fissure FAILED to close

can affect ANT or POST segments

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7
Q

What are chromo abnorm assoc w anophthalmia, microphthalmia, and coloboma?

A
  • 4p syndrome (Wolf-HIrsh)
  • Tri 18
  • Tri 21
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8
Q

What are single gene syn assoc w anophthalmia, microphthalmia, and coloboma?

A
  1. Lenz microphthalmia & oculofaciocardiodental syndrome (BCOR)
  2. CHARGE syndrome (CDH7)
  3. PAX6-gene disorders; SOX2, OTX
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9
Q

What are non-syndromic cases assoc w anophthalmia, microphthalmia, and coloboma?

A
  • RAX and VSX2 genes
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10
Q

What is aphakia?

A

absent lens

(you PHAK if you ain’t bringing your lens)

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11
Q

What can cause the anterior segment condition or aniridia?

A

aniridia (absent iris)

  • isolated
  • WAGR (Wilms, Aniridia, Genitourinary anom, Mental re) 11p13del (inc WT and PAX6)
  • Gillespie syndrome (ITPR1)
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12
Q

Axenfeld Rieger syndrome affects what?

A

(PITX2, FOXC1)

microcornea
abnormal cornea
iris abnormalities
glaucoma

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13
Q

Glaucoma = group of disease that ?

A

inv damage of the optic nerve

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14
Q

Glaucoma = assos w ?
and secondary to ?

A

Assoc w elevated intraocular pressure

Secondary to anterior segment malformation

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15
Q

2 genetic causes of congenital glaucoma

A

CYP1B1, LTBP2

(Fetty Wap)

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16
Q

Genetic cause of Juvenile glaucoma

A

MYOC

17
Q

What is a congenital cataract?

A

opacification of the lens (from birth)

18
Q

What are some chromo abnorm assoc w cataracts?

A

Tri13
Tri18
Tri21

5p del (Cri du chat)
18p del
18q del

19
Q

What are some syndromes assoc w cataracts?

A
  • Lowe
  • Alport
  • SLO
  • Stickler
  • Zellweger
  • Myotonic dystrophy
  • Cockayne
  • IP
  • Ichtyosis
20
Q

What eye abnorm can we see in USH2A?

A

Usher Synd IIA —> retinitis pigmentosa

(also assoc w sensorineural hearing loss or isolated ret pig)

21
Q

How could a patient describe onset of ret pig?

A
  • cannot see at night
  • tunnel vision (constricted visual fields)
  • then losing vision in the day (central vis acuity)

progressive, bilat, symm

22
Q

What is the cause of Stargardt disease?

A

ABCA4

(AR)

you are a STAR if you know your ABCs

23
Q

What eye abnorma is assoc w Stargardt disease?

A

(ABC4A; AR)

macular dystrophy —> we can see mult yellow flakes in the retina w a central area of atrophy

24
Q

What is the cause of Best disease?

A

BEST1 haha

is the the BEST1 bc it is non-syndromic

25
Q

What eye abnorm is assoc w Best disease?

A

macular dystrophy —-> yellow central macula that looks like a yolk

(BEST1; AD)

26
Q

What eye abnorm can we see in oculocutaneous albinism?

A
  • foveal dystrophy –> foveal hypoplasia
  • retina = hypopigmented
  • nystagmus
  • strabismus
  • photophobia
  • sometimes misrouting of optic nerve
27
Q

What eye abnorm do we see in Choroideremia?

A

(CHM, X-linked)

  • choroidopathy —> prog central vision los bc fluid buildup behind retina
28
Q

How is choroidopathy similar to RP?

A
  • they both involve loss of night vision
  • and decreased periph vision
29
Q

What are some high risk genes for age-related macular degeneration?

A

(this is multifact)

  • CFH
  • ARMS2
  • HTRA1
30
Q

What is a common way to test visual acuity?

A

that eye chart w that chunges E on top

20/200 = legal blindness

31
Q

What is an imaging technique to see cross-sectional retinal imaging?

A

Optical coherence tomography (OCT)

the resolution is swag, and it helps a lot w clinical dx of retinal diseases

32
Q

What is the technique for gene therapy (like how do you insert the vector)?

A

you jsut insert it right into the eye! So you put the normal DNA into a virus/vector, then IV injection into the cavity of the eye

or subretinal injection under the retina

33
Q

What was the first FDA approved gene therapy?

A

LUXTURNA AAV2-RPE65 for retinal dystrophy

vector AAV = Adeno-associated virus

34
Q

Can we see eye abnorm w NF1?

A

so we assoc eye stuff more w NFII, but yes we can see stuff in NF1:

  • optic nerve glioma can impact visual fibers
35
Q

What eye abnorm can we see in Williams syndrome?

A

(most = blue eyed + farsighted)

strabismus common

vision = usu normal though

36
Q

What main organ systems does Lowe syndrome affect?

A
  • eyes —> cataracts + glaucoma
  • brain
  • kidneys

(OCRL; X-linked)

Medical Genetics (14 decks)

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