Abnormal Eye And Ear Development

Front 1

Agenesis –

Back 1

absence of an organ, results from failure of appearance of a primordium in embryonic development.

Front 2

Aniridia –

Back 2

no iris.

Front 3

Anisocoria –

Back 3

inequality of diameter of pupils

Front 4

Anlage –

Back 4

primordium, primitive tissue from which develops into an organ or part.

Front 5

Anophthalmos-

Back 5

developmental defect characterized by absence of eye.

Front 6

Aplasia –

Back 6

lack of development of an organ.

Front 7

Choristoma –

Back 7

tissue is historically normal but not in right place, migration defect.

Front 8

Coloboma –

Back 8

 Invagination of neuroectoderm begins but fails to complete closure
 fissure of a part of eye, failure of fusion and subsequent development.
 Since closure begins at equator and proceeds post ant, colobomas may involve optic nerve, choroid & retina, ciliary body & iris
 Lens colobomas result of failure of tertiary vitreous, so involve abnormal mesoderm

Front 9

Cryptophthalmos –

Back 9

fused eyelids with indication of fissure.

Front 10

Cyclopia –

Back 10

single orbital fossa, absent eye, rudiment or single eye present. Nose is either absent or present as a tubular appendage superior to eye.

Front 11

Dermoid

Back 11

epidermal and associated CTs included with closure of fetal cleft.

Front 12

Dysgenesis –

Back 12

defective devo

Front 13

Dysplasia –

Back 13

abnormal devo of tissue or cells, retains some normal features.

Front 14

Ectoderm –

Back 14

origin of retina, optic nerve and neural crest, problem here is problem is your eye

Front 15

Tunica vasculosa lentis –

Back 15

vascular envelope which encloses and nourishes developing lens.

Front 16

Teratoma

Back 16

true neoplasm, consists of different types of tissue, none native to area in which it occurs.

Front 17

Evagination –

Back 17

outpouching of a layer or part, optic anlage outpouches to form optic vesicle.

Front 18

Fissure –

Back 18

cleft or groove formed as optic cup invaginates.

Front 19

Hypoplasia –

Back 19

defective, limited, or incomplete devo.

Front 20

Invagination –

Back 20

infolding of one part into another, optic vesicle infolds to form double-layered optic cup.

Front 21

Leukoma –

Back 21

dense white opacity of cornea.

Front 22

Mesenchyme –

Back 22

meshwork of embryonic CT, forms CT, blood vessels and lympatics.

Front 23

Mesoderm –

Back 23

germ layer, vascular endothelium and extraocular muscles.

Front 24

Microphthalmos –

Back 24

small, disorganized eye.

Front 25

Nanophthalmos –

Back 25

small globes, but no other deformity.

Front 26

Optic pits –

Back 26

indentation of optic primordial during neural fold stage.

Front 27

Optic sulcus –

Back 27

groove in neural plate and folds, first identifiable optic rudiment

Front 28

Optic vesicle –

Back 28

saccular form of embryonic eye, developed from evagination of optic pit, will later become optic cup.

Front 29

Placode –

Back 29

plate-like structure such as a thickened layer of ectoderm in early embryo,

Front 30

Posterior embryotoxon –

Back 30

congenital opacity at corneal margin, also called arcus juvenilis.

Front 31

Synophthalmia –

Back 31

form of cyclopia with parts from two eyes joined at midline.

Front 32

Teratogen –

Back 32

agent that causes production of defects in developing embryo.

Front 33

Teratoma –

Back 33

true neoplasm, consists of different types of tissue, none native to area in which it occurs.

Front 34

Auricular appendages

Back 34

(aka skin tags) common; result from devo of accesory auricular hillocks

Front 35

congenital fixation of stapes

Back 35

can cause deafness due to conductive hearing loss

Front 36

congenital atresia of external acoustic meatus

Back 36

result of failure of meatal plug to canalize; auricle affected & abnormalities of middle and/or inner ear are sometimes present

Front 37

congenital deafness

Back 37

can be caused by Rubella infection during 7th & 8th wks, which may cause maldevelopment of organ of corti and result in deafness

Front 38

What abnormality is associated with the failure of groove 1 expansion?
What Adult strucutre & subdivision is affected? What embryonic primordia is it dervied from?

Back 38

Absence of external meatus;
External ear, external acoustic meatus; dorsal part of pharyngeal groove

Front 39

What abnormality is associated with 1st Arch Syndrome & conductive hearing loss?
What Adult strucutre & subdivision is affected? What embryonic primordia is it dervied from?

Back 39

Abnormality: congenital fixation of stapes; cong. deafness caused by abnormal devo of bony labyrinths or ossicles & eardrum;
--middle ear, ossicles;
--malleous & incus from arch 1;
--stapes from arch 2

Front 40

What abnormality is associated with Trisomy 18 or 13, Arch 1 syndrome, and atresia & middle ear anomalies?
What Adult strucutre & subdivision is affected? What embryonic primordia is it dervied from?

Back 40

--Abnormal shape: the following may be present:
*Anotia: absence of auricle
*Microtia: small auricle
*Auricular appendages
--affects adult external ear, auricle
--devo'ed from auricular hillocks; mesenchyme of arch 1 & 2

Front 41

What abnormality is associated with Rubella infection?
What Adult strucutre & subdivision is affected? What embryonic primordia is it dervied from?

Back 41

--Deafness
--inner ear, saccular part, saccule & cochlear duct
--otic placode; surface ectoderm

Front 42

Retinal & Optic Nerve Disorders-

Back 42

macular degeneration (cones), retinitis pigmentosa (rods), cone rod dystrophies (cones & rods) all may result from abnormal ectoderm; CRX gene problem, TF gene, autodom w/ complete penetrance

Front 43

Albinism: Both forms

Back 43

, oculocutaneous (pink iris that tranilluminates completely & involves OCA1, OCA2, OCA3) or ocular albinism (brown & blue irides that transillum partially; many genes) examples of abnormal neuroectoderm of retinal pigment of epithelial origin

Front 44

Ganglion Cell Abnormality diseases: orig from? neuroectoderm; include?

Back 44

orig from neuroectoderm; include:
-De Mosier Syndrome(Septooptic dysplasia)
-Tay-Sachs disease
-Sandhoff Disease

Front 45

Sandhoff Disease:

Back 45

ganglioside storage disease, HEXB gene, cherry red maculae;
originates from neuroectoderm

Front 46

Tay-Sachs disease:

Back 46

ganglioside storage disease, HEXA gene; originates from neuroectoderm

Front 47

De Mosier Syndrome

Back 47

Septooptic dysplasia HESX1, a HOX TF that causes optic nerve hypoplasia & absence of corpus callosum & septum pellicidum
originates from neuroectoderm

Front 48

What abnormalities are associated with the RBI gene? Devo'ed from?

Back 48

o RBI Gene: devo’ed from neuroectoderm; a tumor suppressor gene; if it is inherited & acts autodom, can cause bilateral tumors in posterior retina (congenital) & periphery (new); if somatic, tumors are unilateral & isolated, onset at 24 months

Front 49

Persistent Hyperplastic Primary Vitreous (PHPV):

Back 49

Persistent Hyperplastic Primary Vitreous (PHPV): mesodermal-originated vessels that persist in primary form on optic nerve;

Front 50

FBN1 gene-- associated with what?

Back 50

o FBN1- gene associated with the mesodermal “coloboma” of lens (not true colo) that results in dislocation of lens; implicated in Marfan Syndrome

Front 51

Retinopathy of Prematurity:

Back 51

premature birth may cause premature termination of mesodermal formation (from optic nerve to ora serrata); major cause of blindness in children, due to retinal detachment when untreated

Front 52

PITX2/RIEGI:

Back 52

TF of HOX that affects neural crest; causes corneal opacities, anterior synechiae w/ secondary glaucoma, abnormal teeth (picket fence) and umbilicus (mushroom shaped)

Front 53

Treacher Collins Syndrome (TOCF1):

Back 53

affects surface ectoderm & brachial arch devo, specif causes abnorms of infer lat lid margin seen as notching & persistent fusion

Front 54

FOXL2:

Back 54

gene that affects surface ectoderm and causes triad of Blepharophimosis, Ptosis & Epicanthus inversus; affects appearance of eyes & nose bridge w/o affecting eye; a winged helix TF

Front 55

PAX6:

Back 55

a TF of the HOX family, affects neuroectoderm, cuases aniridia, macular hypoplasia, keratitis, cataracts & glaucoma

Front 56

VSX1/RINX:

Back 56

a TF of HOX family; affects neural crest, and causes corneal opacity, color deficiency, deafness & cysyts in lining of 3rd & 4th ventricle

Front 57

GLC3A:

Back 57

occupies dioxin receptor (a helix-loop-helix TF, affects mesoderm) causes congenital glaucoma (forms abnormal trabecular meshwork that occludes normal outflow); symptoms of epiphora (tearing) & light sensitivity; corneal enlargement & haze, breaks in Descemet’s mem & increased intraocular pressure

Front 58

Goldenhar Syndrome-

Back 58

affects HFM gene & surface ectoderm; devo of 1st & 2nd brachial arch seen as notching of superior medial lid margin & corneal dermoids

Front 59

VEGF-IGF-1:

Back 59

Gene that affects mesoderm that creates hyaloids artery system (canals); associated w/ persistence of primary vitreous

Front 60

Shh Gene causes what eye abnormality?

Back 60

causes cyclops anomaly, due to ant/post segmentation issue

Front 61

CRX Gene: defects of eye

Back 61

can cause Macular degeneration of cones, Retinitis Pigmentosa of rods & cone/rod dystrophies