Development of the Eye and Ear

Learning Objectives: At the end of this lecture the successful student will be able to:
1 - List the embryological structures that form the eye.
The optic placode and the diencephalon, neural crest cells, mesoderm
2 - Identify the cell lineages (starting with germ layer origins) that form the eye.
The eye is formed from:
Neuroectoderm gives rise to retina, retinal pigment epithelium, iris
(Derived from the neural tube)
Surface Ectoderm gives rise to lens, corneal epithelium
Mesoderm
Neural Crest Cells
3 - Describe the formation and development of the structures of the eye (including:
retina, pigment epithelium, iris, lens, cornea, ciliary body, sclera and choroid).
At about day 32 of development, the optic placode is visible. The eye begins
as an outpocketing of the diencephalon. The neuroectoderm of the optic vesicle
(that outpocketing), once in contact with the surface ectoderm, induces the surface
ectoderm to thicken and invaginate as the lens placode. This will continue to close
the circle to become the lens vesicle. While this is occurring, the neuroectoderm is
reaching around the lens vesicle, forming the optic cup. It is a bilayer structure. The
inner layer is the retinal precursor layer, which forms the neural retina and inner
cup. The outer layer is the retinal pigment epithelium. Differentiation of the retina
occurs around day 47. Rods and cones are distinguishable at 10-15 weeks. At 25
weeks, it is fully differentiated. To make the iris and ciliary body, the optic cup
reaches even further anteriorly to encase the edges of the newly separated lens.
This means that all the intrinsic eye muscles come from neuroectoderm! They are
the sphincter (parasympathetic) and dilator pupillae (sympathetic), and the ciliary
muscles (parasympathetic). The cornea is produced by the pinching off (day 33) of
the lens. The surface ectoderm that closes the gap created by the optic vesicle
becomes the corneal epithelium. The stroma of the cornea is produced by the
migration of mesenchyme into the area anterior to the lens. The sclera and cornea
are made from surface ectoderm and neuroectoderm, respectively. The optic stalk
holds the hyaloid artery and the nerve fibers that will become the optic nerve. If this
choroid fissure fails to close, coloboma (PAX2 defect) may result. The choroid is
produced from mesoderm.
4 - Explain congenital eye malformations and their known causes.
Aphakia (no lens), Aniridia (no iris) PAX6 defect
Coloboma (keyhole pupil) PAX2 defect

Hyaloid artery persistence produces a cyst/cord that refracts light in ways it

shouldnt
Micropthalmia and anopthalmia cytomegalovirus, toxoplasmosis
Retinal detachment inner and outer optic cups dont fuse (Down syndrome,
Marfan syndrome)
Cyclopia/synopthalmia (holoprosencephaly) Shh defect, EtOH, maternal
diabetes, abnormal cholesterol metabolism
5 - Identify and Trace the cell lineages (starting with germ layer origins) that form
the outer, middle and inner ear.
Outer ear: 1st pharyngeal cleft (ectoderm) and pouch (endoderm), mesoderm
produces pinna
Middle ear: 1st (mesoderm) and 2nd (mesoderm) pharyngeal arches (malleus,
incus, stapes, stapedius, CN VII)
Inner ear: 1st (mesoderm) pharyngeal arch (tensor tympani, CNV)
6 - Describe the formation and development of the structures of the inner ear from
the otic placode.
Inner ear: otic placode invaginates to make otic vesicle. The otic vesicle is
pinched off from the ectoderm at about 4.5 weeks. This structure has three lobes
that are the utricular portion, the saccular portion, and the endolymphatic duct. The
most inferior portion, the saccular portion becomes the cochlea and the saccule.
There is a connection between the cochlea and saccule that is retained through
adulthood. It is the ductus reuniens. The utricular portion forms outpocketings which
lose their inner membranous connections to produce the semicircular canals
(angular motion). Anything left over becomes the utricle (linear motion).
7 - Identify the contribution to the developing and adult ear by pharyngeal arch,
pouch and cleft derivatives.
See #5
8 - State the adult counterparts of the embryological eye and ear.
Optic placode lens
Otic placode outer portion of the tympanic membrane
First pharyngeal cleft external acoustic meatus
First pharyngeal pouch inner portion of the tympanic membrane
First pharyngeal arch inner ear structures, malleus, incus, tensor tympani
Second pharyngeal arch stapes, stapedius
9 - Identify the features of CHARGE syndrome.

One or more complex syndromes that can result in both vision and hearing
loss.
C coloboma (80-90%)
H heart defects (75-85%)
A atresia of choanae (50-60%)
R retardation of growth and/or development (70-80%)
G genital hypoplasia
E ear malformations and hearing loss (>90%)