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Medical Genetics > Vision > Flashcards

Vision 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

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
What eye abnorm is assoc w Best disease?
macular dystrophy ----> yellow central macula that looks like a yolk (BEST1; AD)
26
What eye abnorm can we see in oculocutaneous albinism?
- foveal dystrophy --> foveal hypoplasia - retina = hypopigmented - nystagmus - strabismus - photophobia - sometimes misrouting of optic nerve
27
What eye abnorm do we see in Choroideremia?
(CHM, X-linked) - choroidopathy ---> prog central vision los bc fluid buildup behind retina
28
How is choroidopathy similar to RP?
- they both involve loss of night vision - and decreased periph vision
29
What are some high risk genes for age-related macular degeneration?
(this is multifact) - CFH - ARMS2 - HTRA1
30
What is a common way to test visual acuity?
that eye chart w that chunges E on top 20/200 = legal blindness
31
What is an imaging technique to see cross-sectional retinal imaging?
Optical coherence tomography (OCT) the resolution is swag, and it helps a lot w clinical dx of retinal diseases
32
What is the technique for gene therapy (like how do you insert the vector)?
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
What was the first FDA approved gene therapy?
LUXTURNA AAV2-RPE65 for retinal dystrophy vector AAV = Adeno-associated virus
34
Can we see eye abnorm w NF1?
so we assoc eye stuff more w NFII, but yes we can see stuff in NF1: - optic nerve glioma can impact visual fibers
35
What eye abnorm can we see in Williams syndrome?
(most = blue eyed + farsighted) strabismus common vision = usu normal though
36
What main organ systems does Lowe syndrome affect?
- eyes ---> cataracts + glaucoma - brain - kidneys (OCRL; X-linked)

Medical Genetics (14 decks)

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