Eye & Ear Dev. Flashcards

1
Q

what is a coloboma?

A

optic fissure fails to close which leaves a gap in eye structures

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2
Q

describe retinochoroidal coloboma?

A

localized gap in retina inferior to optic disc

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3
Q

what does a coloboma of the iris look like?

A

gives eye a keyhole appearance

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4
Q

what happens when the inner and outer layers of the optic cup fail to fuse?

A

detachment of retina

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5
Q

detachment of the retina is associated with what disorders?

A

downs syndrome and marfan syndrome

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6
Q

does a retinal detachment separate the entire retina?

A

NO. retinal pigment layer remains attached to choroid (vascular layer of eye)

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7
Q

in a retinal detachment, does the neural layer retain its blood supply?

A

yes (central artery from hyaloid artery)

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8
Q

what does a detached retina cause?

A

fluid accumulation between layers of retina and impaired vision

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9
Q

what is cyclopia?

A

partial or complete fusion of eyes (single eye in a single orbit)

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10
Q

what is proboscis?

A

a tubular nose superior to cyclopia

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11
Q

what is synophthalmia?

A

fusion of eyes

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12
Q

how does cyclopia occur?

A

severe suppression of midline cerebral structures that develop from cranial part of neural plate (holoprosencephaly)

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13
Q

microphthalmia causes?

A

small orbit and underdeveloped face

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14
Q

how does microphthalmia occur?

A

arrested development of eye before optic vesicle forms

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15
Q

what does form in microphthalmia?

A

lens

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16
Q

simple microphthalmia occurs mostly from?

A

infectious agents (rubella, herpes simplex)

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17
Q

what is anophthalmia?

A

unilateral or bilateral absence of eye

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18
Q

what forms in anophthalmia?

A

eyelids

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19
Q

what is always present in anophthalmia?

A

orbit defects (formation of orbit is dependent on developing eye)

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20
Q

how does primary anophthalmia occur?

A

arrested development of eye in 4th week from failure of optic vesicle to form

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21
Q

how does secondary anophthalmia occur?

A

suppressed development of forebrain which causes absence of eye

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22
Q

pigment containing cells of the iris are called?

A

chromatophores

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23
Q

what can influence color of the iris?

A
  • melanin distribution on iris

- sympathetic innervation

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24
Q

what is congenital aniridia?

A

lack of iris tissue or almost complete absence of iris

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25
Q

how does aniridia occur?

A

arrested development of rim of optic cup

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26
Q

what is aniridia associated with?

A

glaucoma, cataracts

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27
Q

what is the pupillary membrane?

A

covers anterior surface of lens during embryo

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28
Q

if the pupillary membrane persists, what happens?

A

congenital atresia of pupil (absence of pupil opening)

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29
Q

the proximal part of the hyaloid artery becomes?

A

central artery of retina

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30
Q

what happens if the distal part of hyaloid artery persists?

A
  • worm-like projection structure projecting from optic disc

- cyst can form in it!

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31
Q

describe the eye in individuals with a persistant hyaloid artery?

A

micophthalmic

32
Q

what is congenital aphakia?

A

absence of the lens

33
Q

how does aphakia occur?

A
  • failure of the lens placode to form during 4th week

- failure of lens induction by optic vesicle

34
Q

how does congenital glaucoma usually form?

A

abnormal elevation of intraocular pressure from abnormal draining mechanism of aqueous humor

35
Q

how does congenital glaucoma usually form?

A

abnormal elevation of intraocular pressure from abnormal draining mechanism of aqueous humor

36
Q

what is intraocular tension?

A

imbalance between production of aqueous humor and its outflow

37
Q

how does intraocular tension occur?

A

abnormal development of scleral venous sinus

38
Q

what happens in congenital cataracts?

A

opaque lens that can lead to blindness if untreated

39
Q

how do cataracts form in congenital galactosemia?

A

enzyme deficiency causes large amounts of galactose to accumulate in blood and tissues (occurs after birth)

40
Q

how do cataracts form in congenital galactosemia?

A

enzyme deficiency causes large amounts of galactose to accumulate in blood and tissues (occurs after birth)

41
Q

what is papilledema?

A

fluid accumulation of optic disc

42
Q

why does fluid accumulation around optic disc?

A

retinal vessels are surrounded by pia mater and subarachnoid space around optic nerve

43
Q

why does fluid accumulation around optic disc?

A

retinal vessels are surrounded by pia mater and subarachnoid space around optic nerve

44
Q

how does congenital ptosis occur?

A
  • failure of normal development of levator palpebrae superioris
  • prenatal injury or dystrophy of superior division of CN III
45
Q

how does congenital ptosis occur?

A
  • failure of normal development of levator palpebrae superioris
  • prenatal injury or dystrophy of superior division of CN III
46
Q

what is a palpebral coloboma?

A

notch in eyelid

47
Q

what can result from a lower palpebral coloboma?

A

drying and ulceration of the cornea

48
Q

what is cryptophthalmos?

A

congenital absence of the eyelids

49
Q

cryptophthalmos causes what else?

A
  • small and defective eye
  • no cornea or conjunctiva
  • absence of eyelashes and eyebrows
50
Q

cryptophthalmos is associated with what other disorder?

A

urogenital anomalies

51
Q

how can congenital deafness develop?

A
  • maldevelopment of sound conducting apparatus of middle/external ear
  • maldevelopment of neurosensory structures of internal ear

(dev. of middle/external ear and internal ear are independent of each other)

52
Q

abnormalities of malleus and incus are associated with what syndrome?

A

first arch syndrome

53
Q

defects of the spiral organ and deafness during 7th and 8th week are caused by?

A

rubella

54
Q

congenital fixation of the stapes results in?

A

conductive deafness with otherwise a normal ear

55
Q

the annular ligament connects which structures?

A

base of stapes to oval window (fenestra vestibuli)

56
Q

failure of differentiation of the annular ligament results in?

A

fixation of stapes to bony labyrinth

57
Q

infants with trisomy syndromes and those whose mothers were exposed to certain drugs during pregnancy usually have what kind of ear defects?

A

abnormal shape and placement of auricle (low set ears)

58
Q

auricular appendages occur from?

A

development of accessory auricular hillocks

59
Q

what is anotia?

A

absence of auricle

60
Q

what is anotia associated with?

A

first arch syndrome

61
Q

how does anotia occur?

A

failure of mesenchymal proliferation

62
Q

what is microtia?

A

small or rudimentary auricle

63
Q

how does microtia occur?

A

suppression of mesenchymal proliferation

64
Q

microtia is an indicator of?

A

atresia of external acoustic meatus & middle ear anomalies

65
Q

what are preauricular sinuses and fistulas?

A

pit-like cutaneous depressions of shallow sinues that are located anterior to auricle

66
Q

preauricular sinuses are associated with?

A

deafness and kidney malformation

67
Q

the first pharyngeal groove disappears as what happens?

A

external acoustic meatus forms

68
Q

preauricular sinuses can be formed by?

A

defective closure of the first pharyngeal groove

69
Q

what’s most important about preauricular sinuses?

A

they can become infected

70
Q

what do auricular fistulas connect?

A

preauricular skin with tympanic cavity or tonsillar fossa

71
Q

how does atresia of external acoustic meatus form?

A

failure of meatal plug to canalize

72
Q

atresia of external acoustic meatus is associated with?

A

first arch syndrome (abnormal auricle & middle/internal ear)

73
Q

how is absence of external acoustic meatus different than atresia?

A
  • atresia: deep part is open but superficial part is blocked & abnormal auricle
  • absence: normal auricle
74
Q

how does absence of external acoustic meatus occur?

A

failure of inward expansion of first pharyngeal groove and failure of meatal plug to disappear

75
Q

what is congenital cholesteatoma?

A
  • fragment of keratinized epithelial cells retained after birth
  • white cyst medial and posterior to tympanic membrane
76
Q

what’s clinical relevant about congenital cholesteatoma?

A

cells can grow and invade neighboring bone