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Congenital Anomalies Of Eye Flashcards

1
Q

What is megalocornea?

A

Enlargement of the diameter of cornea

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2
Q

What is the normal diameter of cornea?

A

At birth = 13 mm (adult size)
After 2 years > 13mm

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3
Q

What is microcornea?

A

Horizontal diameter is < 10mm since birth

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4
Q

What is microcornea associated with?

A

Nanophthalmos
Microphthalmos

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5
Q

What is corneal plana?

A

Bilateral flat cornea

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6
Q

What is corneal plana associated with?

A

Microcornea

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7
Q

What does corneal plana result in?

A

Marked astigmatic refractive error

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8
Q

What is anterior embryotoxon?

A

Board limbus superiorly

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9
Q

What is posterior embryotoxon?

A

Thickening and anterior displacement of Schwalbe’s line

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10
Q

What is seen in congenital corneal opacity?

A

Scarring of corneal stoma

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11
Q

What is congenital corneal opacity associated with?

A

Lowe’s syndrome
Rieger’s syndrome

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12
Q

What is sclerocornea?

A

Cloudy cornea (peripheral, diffuse)

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13
Q

Where does dermoids appear?

A

At inferotemporal limbus

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14
Q

Describe the features of dermoids

A

Round dome shaped
Pink, white or yellow in color

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15
Q

What is heterochromia of iris?

A

Variation in iris color

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16
Q

What is heterochromia iridium?

A

One iris differs than the other eye

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17
Q

What is heterochromia iridis?

A

One sector differ from remainder of iris

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18
Q

What is corectopia?

A

Abnormal eccentric placed pupil

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19
Q

What is polycoria?

A

More than one pupil

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20
Q

What is congenital aniridia?

A

Congenital absence of iris

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21
Q

What is true aniridia?

A

Complete absence of iris

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22
Q

What is clinical aniridia?

A

There is presence of peripheral rim of iris

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23
Q

What is congenital aniridia associated with?

A

Glaucoma

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24
Q

What is persistent pupillary membrane?

A

Remnants of vascular sheath of lens that appears as stellate shaped shreds of pigmented tissue coming from ant surface of iris

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25
What is congenital coloboma of uveal tract?
Absence of tissue (iris, ciliary body, choroid)
26
What is typical coloboma?
Absence of tissue at inferonasal quadrant
27
What is complete typical coloboma?
Absence of tissue from pupil to optic nerve
28
What is incomplete typical coloboma?
Absence of tissue (iris alone/iris & ciliary body)
29
What is atypical coloboma?
Absence of tissue anywhere else except for the inferonasal quadrant
30
What is congenital cataract?
Development of opacity in lens/capsule which occurs before birth (at embryonic/foetal nucleus)
31
What is developmental cataract?
Development of opacity in lens/capsule which occurs from infancy to adolescence
32
What is the etiology of congenital cataracts?
- idiopathic, hereditary - maternal (malnutrition, infection, drugs, radiation) - foetal/infantile (trauma, deficient oxygenation)
33
What is the management of cataract?
Surgery - Extracapsular cataract extraction (ECCENTRIC) Small incision cataract surgery (SICS) - Correction of aphakia (no eye lens) & amblyopia (lazy eye)
34
What is coloboma of lens?
Unilateral notch in the lower quadrant of equator
35
What is congential ectopic lentis?
partial/complete rupture of lens zonules -> (bilateral & symmetrical) displacements of lens from its normal position
36
What is lenticonus?
Anterior/posterior cone-shaped elevation of pole of lens
37
What is the finding on distant direct ophthalmoscopy in lenticonus?
Oil globule lying in centre of red reflex
38
What is microspherophakia?
Lens is spherical in shape & small in size
39
Coloboma of optic disc is due to?
Failure in closure of embryonic fissure
40
How does minor defect coloboma of optic disc manifest?
Manifests as inferior crescent
41
minor defect coloboma of optic disc is associated with?
Hypermetropia Astigmatism
42
How does fully developed coloboma of optic disc manifest?
Manifests inferonasally as large white excavation
43
fully developed coloboma of optic disc is associated with?
Superior visual field defect
44
What is Drusen Optic disc?
Intrapapillary refractive calcified body located within optic disc
45
Where does these refractive bodies lie in drusen optic disc?
It lies deep beneath disc tissue (childhood) and emerges out (teens)
46
How does drusen optic disc present as in children?
Pseudopapilloedema - optic disc will look elevated but not due to swelling of optic disc
47
How does drusen optic disc present as in teens?
Waxy pea-like irregular refractive bodies
48
How is hypoplasia of optic disc seen in ophthalmoscope?
Small disc surrounding by yellowish & pigmented ring (double ring sign)
49
What is hypoplasia of optic disc associated with?
Maternal alcohol, diabetes, drugs
50
Persistent hyaloid artery is the?
Remnant of hyaloid arterial system
51
What are medullated nerve fibers?
Opaque nerve fibers representing Myelination of nerves fibers of retina
52
How does meduallated nerve fibers look on ophthalmoscopy?
Whitish patch with feathery margins, partially conceals transversing retinal vessels
53
What is congenital ptosis?
the presence of a droopy eyelid or eyelids since birth
54
What is epicanthus?
A vertical fold extends from the upper lid over the medial angle of the eye and the caruncle
55
What is congenital coloboma?
Normal tissue in/around the eye is missing due to incomplete closure of embryonic fissure (around 5-7 GA)
56
Sites of defect in congenital coloboma
Iris = cat eye appearance/key hole shaped pupil Retina Choroid Optic disc Eyelids
57
What is Cryptophthalmus?
Eyelid fails to form -> skin covering eyes completely/partially
58
What is Distichiasis?
Extra row of eyelashes grow from meibomian glands on inner margin of eyelids
59
What is Microblepharon?
Eyelids are abnormally short vertically due to insufficient skin to fully cover the eye
60
What is Epiblepharon?
Extra fold of skin pushes the eyelashes inward towards the eye
61
What is euryblepharon?
Horizontal length of eyelid is abnormally wide and eyelids appear everted (lower lid)
62
What is congenital dacrocystitis?
Inflammation of lacrimal sac occurring in newborns infant as a result of blockage in nasolacrimal duct due to bacteria/epithelial debris
63
What are the C/F do congenital dacrocystitis?
- epiphora, followed by copious mucopurulent discharge - positive regurgitation test - swelling on sac area
64
What is the complications in congenital dacrocystitis?
- recurrent conjunctivitis - chronic dacrocystitis - abscess or fistulae
65
What is the treatment of congenital dacrocystitis?
- massage - topical antibiotics - irrigation with normal saline - probing under general anesthesia (age = 6M) - balloon catheter dilation - intubation with silicone tube - dacryocystorhinostomy
66
What is craniosynostosis?
Premature closure of one or more cranial sutures
67
What is mandibulofacial dysostosis?
Hypoplasia of zygoma & mandible
68
What are the ocular features in mandibulofacial dysostosis?
- indistinct inferior orbital margin - coloboma of lower eyelid - anti-mongoloid slant
69
What is craniofacial dysostosis?
Premature closure of coronal & sagittal suture with maxillary hypoplasia
70
What are the ocular features in craniofacial dysostosis?
- v-pattern exotropia & hypertropia - hypertelorism - optic atrophy
71
What are the ocular associations in craniofacial dysostosis?
- blue sclera - megalocornea - aniridia - glaucoma - cataract - ectopic lentis - optic nerve dysplasia
72
What are the systemic features in craniofacial dysostosis?
- mental retardation - high arched palate - irregular dentition - hooked nose (parrot beak)
73
What are the ocular features in median facial cleft syndrome?
- hypertelorism - telecanthus - v-shaped frontal hairline (widow’s peak)
74
What is Acrocephaly-Syndactyly?
Acrocephaly = cone shaped/tower like skull caused by premature fusion of cranial sutures Syndactyly = webbing/fusion of fingers/toes
75
What are the ocular features in Acrocephaly-Syndactyly?
- hypertelorism - bilateral proptosis - congenital ptosis - antimongoloid slant - divergent squint
76
What are the ocular association in Acrocephaly-Syndactyly?
- keratoconus - congenital glaucoma - ectopia lentis
77
What is hypertelorism?
Widely separated eyeballs due to widely separated orbits & broad nasal bridge
78
What are the ocular features seen in hypertelorism?
- increased interpupillary distance (85mm) - telecanthus - divergent squint - antimongoloid slant - optic atrophy

Ophthal (18 decks)

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