Developmental Anomalies

Question 1

Lenticonus

Answer 1

Cone shame lens protruding anteriorly or posteriorly.

Anterior- bilateral. Associated with alport syndrome.

Posterior-Unilateral. Associated with Lowe’s syndrome.

Can progress with age.

Question 2

Microspherophakia

Answer 2

Small, spherical lens in which the equator of the lens is visible with full pupillary dilation.

Lens may move and block the pupil.

Question 3

Congenital cataract

Answer 3

Lamellar- alternating clear and white cortical lamellar opacities.

Cerulean- blue opacities.

Sutural- opacification of the anterior or posterior Y suture.

Polar- Central opacity in the anterior or posterior capsule.

Unilateral and bilateral.
Typically opacities are stable and do not interfere with vision.

Question 4

Mittendorf Dot

Answer 4

Remnant of the hyaloid artery on the nasal posterior lens capsule.
Unilateral or bilateral.
Does not interfere w vision.

Question 5

Epicapsular Stars

Answer 5

Remnant of the tunica vasculosa lentos on the anterior lens capsule.

Unilateral or bilateral

Typically does not interfere w vision.

Question 6

PPM

Answer 6

Remnant of the tunica vasculosa lentos on the anterior iris.

Unilateral or bilateral.

Typically does not interfere w vision.

Question 7

Brushfield spots

Answer 7

Aggregation of collagen in the iris stroma.
Bilateral
Down syndrome
Occurs 10-24% of normal patients (called Kunkmann-Wolffian Bodies)

Question 8

Aniridia

Answer 8

Total or near total absence of the iris.
Bilateral
Associated with: Gillespie’s and Millers syndrome.

90% develop aniridic related keratopathy. K changes occur in early teen years such as pannus, ulcer and scarring.

75% develop synechial angle closure glaucoma.

Macular hypoplasia and nystagmus are common.

25% of cases will develop Wilms tumor. (Kidney tumor)

Question 9

Hypertelorism

Answer 9

Increased distance between eyes and orbit. Increased pupillary distance.

Question 10

Telecanthus

Answer 10

Increased distance between the medial canthi. NORMAL pupillary distance.

May be the result of facial fracture.

Question 11

Anopthalmos (anopthalmia)

Answer 11

Absence of the globe.
Unilateral or bilateral.
The globe may be replaced by a cyst- could also be due to surgery.

Question 12

Micropthalmos (microphthalmia)

Answer 12

Small, malformed globe.

Unilateral or bilateral.

Question 13

Bupthalmos

Answer 13

Enlarged globe due to elevated IOP before birth or during 1st three years of life.
Unilateral and bilateral.

Question 14

Cryptopthalmos

Answer 14

Hidden globe due to poor formation of the eyelids. Skin stretches from forehead to cheek.

Unilateral or bilateral.

Question 15

Microcornea

Answer 15

Adult HVID less than 11mm.
Unilateral or bilateral.
Increased incidence of angle closure/narrow angle glaucoma.

Question 16

Magalocornea

Answer 16

Adult HVID greater than 13mm.

Bilateral.

Question 17

Sclerocornea

Answer 17

Scleralization and vascularization of the peripheral entire cornea.

Bilateral.

Question 18

Cornea plana

Answer 18

Severely flat corneal curvature where the sclera and cornea have the same curvature.
Bilateral.

Question 19

Posterior Embryotoxin.

• What is it
• Laterality

Answer 19

Anterior displaced schwalbe’s line. Seen as a creamy white thickened line in the cornea periphery.

Bilateral

Question 20

Posterior Embryotoxin.

• Occurs in __% of normal patients
• Can occur in which 4 conditions

Answer 20

15%

Axenfeld anomaly- Posterior Embryotoxin + attached iris strands. 50% develop glaucoma.

Axenfeld Syndrome- Axenfeld anomaly + glaucoma.

Rieger Anomaly - Axenfeld anomaly + iris stromal hypoplasia. Corectopia and entropion uveal may be present.

Rieger Syndrome- Rigers anomly + dental or facial malformations.

Question 21

Peters anomaly

Answer 21

Central corneal opacity, usually with iris strands that extend from the collarette to a posterior corneal deficit behind the scar.

Bilateral.

50% develop glaucoma due to abnormal development of TM and schemes canal.

Question 22

Epiblepharon

Answer 22

Horizontal fold of skin across the eyelid margin.

Bilateral.

Most commonly affects the LL. Common in asian infants. Typically outgrown.

Question 23

Epicanthal folds

Answer 23

Vertical folds of skin at the medial (sometimes lateral) canthus.

Bilateral.

can create appearance of esotropia.

Question 24

Ablepharon

Answer 24

Absence of eyelids.

Bilateral.

Question 25

Microblepharon

Answer 25

Vertical shortening of the eyelids.

Bilateral.

Question 26

Euryblepharon

Answer 26

Horizontal elongation and vertical shortening of the eyelids.
Bilateral.

Question 27

Ankyloblepharon

Answer 27

Partial or complete fusion of the upper and lower eyelid margins.

Can be unilateral or bilateral.

May be the result of cicatrizing disease.

Question 28

Blepharophimosis syndrome

Answer 28

Eyelids cannot retract.

Ptosis
telecanthus (Increased distance between the medial canthi. NORMAL pupillary distance)
epicanthus inverses.

Bilateral.

Question 29

Coloboma

Answer 29

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

Unilateral or bilateral.