Final: Developmental Abnormalities

Question 1

Cone-shaped lens protruding anteriorly or posteriorly

Answer 1

Lenticonus

Question 2

Small, spherical lens in which the equator of the lens is visible with full pupillary dilation, lens may move and block pupil, increasing IOP

Answer 2

Microspherophakia

Question 3

Most common congenital cataract

Answer 3

Polar Cataract

Question 4

Remnant of the hyaloid artery on the nasal posterior lens capsule

Answer 4

Mittendorf Dot

Question 5

Remnant of the tunica vasculosa lentis on the anterior lens capsule

Answer 5

Epicapsular Star

Question 6

Remnant of the tunica vasculosa lentis on the anterior iris

Answer 6

Persistent Pupillary Membrane (PMM)

Question 7

Aggregation of the collagen in the iris stroma associated with Down syndrome but can happen in normal patients

Answer 7

Brushfield spots

Question 8

Total/ near-total absence of the iris

Answer 8

Aniridia

Question 9

Increased distance between eyes and orbit; increased pupillary distance

Answer 9

Hypertelorism

Question 10

Increased distance between the medial canthi; normal pupillary distance

Answer 10

Telecanthus

Question 11

Absence of the globe

Answer 11

Anophthalmos

Question 12

Small, malformed globe

Answer 12

Microphthalmos

Question 13

Enlarged globe due elevated IOP before birth or during 1st 3 years of life

Answer 13

Buphthalmos

Question 14

Hidden globe due to poor formation of eyelids, skin stretches from forehead to cheek

Answer 14

Cryptophthalmos

Question 15

Adult horizontal corneal diameter <11 mm

Answer 15

Microcornea

Question 16

Adult horizontal corneal diameter >13 mm

Answer 16

Megalocornea

Question 17

Scleralization and vascularization of the peripheral or entire cornea

Answer 17

Sclerocornea

Question 18

Severely flat corneal curvature, where the sclera and cornea have the same curvature

Answer 18

Cornea Plana

Question 19

Anteriorly displaced Schwalbe’s line
Seen as a creamy-white thickened line in the corneal periphery

Answer 19

Posterior Embryotoxin

Question 20

Central corneal opacity
Usually with iris strands that extend from the collarette to a posterior corneal defect behind the scar

Answer 20

Peter’s Anomaly

Question 21

Horizontal folds across the eyelid margin

Answer 21

Epiblepharon

Question 22

Vertical fold of skin at the medial (and sometimes lateral) canthus

Answer 22

Epicanthal folds

Question 23

Absence of eyelids

Answer 23

Ablepharon

Question 24

Vertical shortening of the eyelids

Answer 24

Microblepharon

Question 25

Horizontal elongation and vertical shortening of the eyelids

Answer 25

Euryblepharon

Question 26

Partial or complete fusion of upper and lower eyelid margins

Answer 26

Ankyloblepharon

Question 27

4 features….
Blepharophimosis
Epitcanthus inversus
Telecanthus
Ptosis

Answer 27

Blepharophimosis Syndrome

Question 28

Defect in the eyelid or iris (can also affect the retina, choroid, and ON) due to failure of complete closure of the embryonic fissure

Answer 28

Coloboma