DM & A: Globe, Retina, and Choroid

Question 0

simple, complex

Answer 0

two varieties of coloboma

Question 1

2

Answer 1

microphthalmos signifies a total axial length more than __ s.d.’s below age-matched controls

Question 2

coloboma

Answer 2

the presence of this feature makes microphthalmos “complex”

Question 3

complete coloboma

Answer 3

term for a coloboma involving all the structures derived from the optic cup (optic disc, retina, choroid, ciliary body, iris)

Question 4

optic fissure

Answer 4

in an eye with microphthalmos, an orbital cyst indicates failure of this to close

Question 5

posterior microphthalmos

Answer 5

subset of microphthalmos in which corneal diameter is normal

Question 6

microblepharon

Answer 6

lid abnormality associated with anophthalmos

Question 7

cyst

Answer 7

in anophthalmos, the globe is often replaced by a ______

Question 8

microphthalmos

Answer 8

.

Question 9

15 mm

Answer 9

microphthalmos signifies an eye at birth with its greatest diameter less than this

Question 10

choroidal coloboma

Answer 10

.

Question 11

retinal detachment

Answer 11

what is this patient at risk to develop at some point in their life?

Question 12

nanophthalmos

Answer 12

term for pure microphthalmos

Question 13

uveal effusion

Answer 13

what tendency is noted in patients with nanophthalmos?

Question 14

myelinated nerve fibers

Answer 14

.

Question 15

no

Answer 15

is the other eye affected (in all likelihood)?

Question 16

high myopia, anisometropia, amblyopia

Answer 16

three ocular associations of myelinated nerve fibers

Question 17

neurofibromatosis type 1, Gorlin syndrome

Answer 17

two systemic syndrome associated with this finding

Question 18

Aicardi syndrome

Answer 18

BILATERAL syndrome characterized by multiple depigmented CHORIORETINAL LACUNAE clustered around a disc that may be hypoplasitc, colobomatous, or pigmented

Question 19

x-linked dominant

Answer 19

Aicardi syndrome inheritance

Question 20

Aicardi syndrome

Answer 20

This patient presents with bilateral retinal anomalies. Name the likely syndrome:

Question 21

Aicardi syndrome

Answer 21

.

Question 22

iris coloboma, cataract, microphthalmos, persistent pupillary membrane

Answer 22

Aicardi syndrome: four eye features

Question 23

infantile spasms, mental retardation, agenesis of the corpus callosum, skeletal malformations, early death

Answer 23

Aicardi syndrome: five systemic features

Question 24

retinal macrovessel

Answer 24

.

Question 25

excellent

Answer 25

visual prognosis in one word

Question 26

racemose angiomatosis

Answer 26

the above may be considered a minor variant of this condition due to the frequent presence of coexisting AV malformations

Question 27

superotemporal

Answer 27

which quadrant is favored by AV malformations (one word)?

Question 28

hemorrhage, exudation, vascular occlusion

Answer 28

name three potential complications of this condition

Question 29

cyst

Answer 29

what can be found in the fovea pictured here that often accompanies this congenital condtition (one word)?

Question 30

Grade 1 AVM

Answer 30

Localized, well-compensated, intervening arteriolar or abnormal capillary plexus between the communicating vessels

Question 31

Grade 2 AVM

Answer 31

Direct arteriovenous malformation without intervening vascular components that may decompensate, leading to leakage of fluid (from slight leakage to extensive retinal edema, exudates, and hemorrhages)

Question 32

Grade 3 AVM

Answer 32

Large and diffuse anastomosing channels, leading to difficulty in recognizing arterial and venous components; degenerative changes in the retina and poor vision

Question 33

primary anophthalmos

Answer 33

condition caused by complete agenesis of the optic anlage in the absence of associated anomalies

Question 34

microphthalmos

Answer 34

what is present in the large majority of cases of clinical anophthalmos?

Question 35

anophthalmos

Answer 35

ocular condition that results from complete suppression of forebrain development and is uniformly lethal

Question 36

consecutive anophthalmos

Answer 36

term for initial development of an ocular structure that subsequently undergoes obliteration

Question 37

IOP

Answer 37

failure to maintain this is believed to explain much of the link between colobomas and microphthalmos

Question 38

false

Answer 38

TRUE or FALSE: microphthalmos is usually an isolated ocular finding

Question 39

trisomy 13

Answer 39

condition most notably associated with microphthalmos

Question 40

holoprosencephaly, proboscis

Answer 40

expected associated findings in cyclopia (two major)

Question 41

sonic hedgehog

Answer 41

cyclopia is linked to dysfunction of this homeobox gene

Question 42

congenital cystic eye, cystic coloboma, teratoma, anterior encephalocele, congenital rhabdomyosarcoma

Answer 42

conditions that present with congenital cysts occupying orbit at birth

Question 43

congenital cystic eye

Answer 43

condition caused by failure of invagination of the lens placode and optic vesicle

Question 44

congenital cystic eye

Answer 44

.

Question 45

5

Answer 45

the embryonic fissure (optic fissure) should close during this week

Question 46

keyhole pupil

Answer 46

term for physical appearance in iris coloboma

Question 47

true

Answer 47

TRUE or FALSE: the majority of colobomas are bilateral

Question 48

true

Answer 48

TRUE or FALSE: colobomas usually involve more than one ocular tissue

Question 49

ciliary body coloboma

Answer 49

usual underlying defect in lens coloboma