Anat Embryological Disorders

Front 1

Coloboma of eyelid

Back 1

notch in eyelid

Front 2

Cyclopia

Back 2

single median eye or 2 fused at midline

Front 3

Hypertelorism

Back 3

greater than normal distance between orbits
often accompanied by serious defects in development of forebrain

Front 4

Hypotelorism

Back 4

less than normal distance between orbits
midbrain often affected

Front 5

Anophthalmia

Back 5

absence of ocular tissue derived from optic cup

Front 6

Microphthalmia

Back 6

globe and lens small and undeveloped

Front 7

Buphthalmos = congenital glaucoma

Back 7

marked distention of eye caused by increase of IOP
cause is often defect in angle structures or persistence of Barkan's membrane
even with aggressive long term medical and surgical management by a glaucoma specialist the visual outcome is often very poor
endothelial compromise leads to corneal edema and scarring
nerve fiber loss resulting in field loss

Front 8

Ocular albinism

Back 8

lack of pigmentation
normal development of sensory retina is influenced by melanin-related agent in RPE
absence of pigment causes retinal abnormalities are present
underdeveloped central retina, fewer rods

Front 9

Megalocornea

Back 9

cornea and anterior segment enlarged
may be associated with increased IOP

Front 10

Microcornea

Back 10

normal size globe, small cornea

Front 11

Mittendorf's dot

Back 11

small area of tissue on the posterior lens
no visual implications

Front 12

Congenital cataract

Back 12

associated with genetic, metabolic, or infectious agents
viral infection of the mother during the first trimester
effect on VA depends on extent
visually debilitating cataracts

Front 13

Bergmeister's papilla

Back 13

a remnant of the glial tissue of the hyaloids system
glial tissue projects from optic nerve head
no visual implications

Front 14

Optic nerve hypoplasia

Back 14

optic nerve fails to develop completely---fewer than normal number of axons
failure of ganglions to differentiation
failure of their axons to reach the optic stalk
often associated with CNS developmental problems or endocrine disorders, cognitive difficulties and multiple handicaps are common

Front 15

Persistent hyperplastic primary vitreous

Back 15

failure of the hyaloid arterial system to regress
appears as a white retrolental mass
associated with angle closure glaucoma and cataract formation

Front 16

Persistent pupillary membrane

Back 16

remnant strands form the pupillary membrane
usually attached to collarette
no visual implications

Front 17

Coloboma

Back 17

forms a keyhole-shaped pupil

Front 18

Aniridia

Back 18

failure of iris to form

Front 19

Myelinated or medullated nerve fibers

Back 19

myelinization of the nerve fiber layer
usually occupies a small area at the disc

Front 20

Coloboma of internal structures

Back 20

Inferior defect of those ocular structures formed from the optic cup
ranges from insignificant chorioretinal defect to complete involvement of inferior retina and choroid
may also involve iris and ciliary body

Front 21

Retinoblastoma

Back 21

Most common malignant tumor in childhood

Front 22

Sturge-Weber syndrome

Back 22

nevus of skin of face (often called port-wine stain)
ocular manifestations include hemangiomas of choroidal BV’s
may have diffuse leakage leading to retinal detachment