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61 Cards in this Set

  • Front
  • Back
Agenesis –
absence of an organ, results from failure of appearance of a primordium in embryonic development.
Aniridia –
no iris.
Anisocoria –
inequality of diameter of pupils
Anlage –
primordium, primitive tissue from which develops into an organ or part.
developmental defect characterized by absence of eye.
Aplasia –
lack of development of an organ.
Choristoma –
tissue is historically normal but not in right place, migration defect.
Coloboma –
 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
Cryptophthalmos –
fused eyelids with indication of fissure.
Cyclopia –
single orbital fossa, absent eye, rudiment or single eye present. Nose is either absent or present as a tubular appendage superior to eye.
epidermal and associated CTs included with closure of fetal cleft.
Dysgenesis –
defective devo
Dysplasia –
abnormal devo of tissue or cells, retains some normal features.
Ectoderm –
origin of retina, optic nerve and neural crest, problem here is problem is your eye
Tunica vasculosa lentis –
vascular envelope which encloses and nourishes developing lens.
true neoplasm, consists of different types of tissue, none native to area in which it occurs.
Evagination –
outpouching of a layer or part, optic anlage outpouches to form optic vesicle.
Fissure –
cleft or groove formed as optic cup invaginates.
Hypoplasia –
defective, limited, or incomplete devo.
Invagination –
infolding of one part into another, optic vesicle infolds to form double-layered optic cup.
Leukoma –
dense white opacity of cornea.
Mesenchyme –
meshwork of embryonic CT, forms CT, blood vessels and lympatics.
Mesoderm –
germ layer, vascular endothelium and extraocular muscles.
Microphthalmos –
small, disorganized eye.
Nanophthalmos –
small globes, but no other deformity.
Optic pits –
indentation of optic primordial during neural fold stage.
Optic sulcus –
groove in neural plate and folds, first identifiable optic rudiment
Optic vesicle –
saccular form of embryonic eye, developed from evagination of optic pit, will later become optic cup.
Placode –
plate-like structure such as a thickened layer of ectoderm in early embryo,
Posterior embryotoxon –
congenital opacity at corneal margin, also called arcus juvenilis.
Synophthalmia –
form of cyclopia with parts from two eyes joined at midline.
Teratogen –
agent that causes production of defects in developing embryo.
Teratoma –
true neoplasm, consists of different types of tissue, none native to area in which it occurs.
Auricular appendages
(aka skin tags) common; result from devo of accesory auricular hillocks
congenital fixation of stapes
can cause deafness due to conductive hearing loss
congenital atresia of external acoustic meatus
result of failure of meatal plug to canalize; auricle affected & abnormalities of middle and/or inner ear are sometimes present
congenital deafness
can be caused by Rubella infection during 7th & 8th wks, which may cause maldevelopment of organ of corti and result in deafness
What abnormality is associated with the failure of groove 1 expansion?
What Adult strucutre & subdivision is affected? What embryonic primordia is it dervied from?
Absence of external meatus;
External ear, external acoustic meatus; dorsal part of pharyngeal groove
What abnormality is associated with 1st Arch Syndrome & conductive hearing loss?
What Adult strucutre & subdivision is affected? What embryonic primordia is it dervied from?
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
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?
--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
What abnormality is associated with Rubella infection?
What Adult strucutre & subdivision is affected? What embryonic primordia is it dervied from?
--inner ear, saccular part, saccule & cochlear duct
--otic placode; surface ectoderm
Retinal & Optic Nerve Disorders-
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
Albinism: Both forms
, 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
Ganglion Cell Abnormality diseases: orig from? neuroectoderm; include?
orig from neuroectoderm; include:
-De Mosier Syndrome(Septooptic dysplasia)
-Tay-Sachs disease
-Sandhoff Disease
Sandhoff Disease:
ganglioside storage disease, HEXB gene, cherry red maculae;
originates from neuroectoderm
Tay-Sachs disease:
ganglioside storage disease, HEXA gene; originates from neuroectoderm
De Mosier Syndrome
Septooptic dysplasia HESX1, a HOX TF that causes optic nerve hypoplasia & absence of corpus callosum & septum pellicidum
originates from neuroectoderm
What abnormalities are associated with the RBI gene? Devo'ed from?
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
Persistent Hyperplastic Primary Vitreous (PHPV):
Persistent Hyperplastic Primary Vitreous (PHPV): mesodermal-originated vessels that persist in primary form on optic nerve;
FBN1 gene-- associated with what?
o FBN1- gene associated with the mesodermal “coloboma” of lens (not true colo) that results in dislocation of lens; implicated in Marfan Syndrome
Retinopathy of Prematurity:
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
TF of HOX that affects neural crest; causes corneal opacities, anterior synechiae w/ secondary glaucoma, abnormal teeth (picket fence) and umbilicus (mushroom shaped)
Treacher Collins Syndrome (TOCF1):
affects surface ectoderm & brachial arch devo, specif causes abnorms of infer lat lid margin seen as notching & persistent fusion
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
a TF of the HOX family, affects neuroectoderm, cuases aniridia, macular hypoplasia, keratitis, cataracts & glaucoma
a TF of HOX family; affects neural crest, and causes corneal opacity, color deficiency, deafness & cysyts in lining of 3rd & 4th ventricle
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
Goldenhar Syndrome-
affects HFM gene & surface ectoderm; devo of 1st & 2nd brachial arch seen as notching of superior medial lid margin & corneal dermoids
Gene that affects mesoderm that creates hyaloids artery system (canals); associated w/ persistence of primary vitreous
Shh Gene causes what eye abnormality?
causes cyclops anomaly, due to ant/post segmentation issue
CRX Gene: defects of eye
can cause Macular degeneration of cones, Retinitis Pigmentosa of rods & cone/rod dystrophies