Pupil & Systemic diseases
 Abnormally shaped pupils:
Acquired
Congenital
Abnormalities
Description
Aniridia
Iris is hypoplastic, creating a
large pupillary opening
Ectopia lentis
et pupillae
lens dislocations associated
with oval, ellipsoid, or slitlike displaced pupils
Iris coloboma
notch inferiorly or infranasally in the iris
Ocular associations
cataracts, glaucoma, and
macular or optic nerve
hypoplasia
Systemic associations
Wilms' tumor
Marfan syndrome
Hyper-homocysinuria
Weil Machesani syndrome
chorioretinal or optic nerve
colobomas
-
AC cleavage
anomalies
Ectopic
"corectopia"
Persistent
pupillary
membrane
Iritis
Trauma
Neurologic
abnormal adhesions
between the cornea and iris
Misplaced pupil
Chromosomal anomalies:
Patau, Edward, Cat eye
Goldenhar, Dandy Walker,
CHARGE syndromes
Peters anomaly
Rieger syndrome
spoke-like opacities across
the pupil
Posterior synechia
Iris tear, rupture sphincter
Irregular pupil (ARP)
Neuro-syphilis
 Abnormal reactivity:
A) Diseases affecting the afferent pathway:
1- Relative Afferent Pupillary Defect (RAPD):
 Optic neuropathy
 Asymmetric chiasmal syndromes
 Isolated optic tract lesions "contralateral RAPD"
 Retro-geniculate lesions
 Lesions in the midbrain pretectum
 Large macular lesion
2- Absolute Afferent Pupillary Defect (APD):
 The eye is completely blind
 Pupils can also react during attempted gaze at near
targets, and thus exhibit light-near dissociation
-
B) Diseases affecting the efferent pathway:
1- Sympathetic:
Central
Pre-ganglionic
Brainstem disease (stroke,
- Pancoast tumor
tumor…)
- Neck lesion (trauma,
Syringomyelia
surgery…)
Lateral medullary syndrome
- Carotid & aortic
Spinal cord tumors
aneurysm, dissection
DM autonomic neuropathy
Isolated optic tract lesions may have a
contralateral RAPD, despite normal
visual acuities, because the defective
temporal field in the contralateral eye
is 61–71% larger than the nasal field of
the ipsilateral eye, the nasal retina has
a greater photoreceptor density, and
the ratio of crossed to uncrossed
fibers in the chiasm is 53:47. The
magnitude of the RAPD in this setting
may reflect the relative light sensitivity
of the intact temporal versus nasal
field
-
Post-ganglionic
Cluster headache
Internal carotid dissection
Nasopharyngeal tumors
Cavernous sinus lesion
Orbital apex syndrome
2- Parasympathetic:
-
Holmes Adie syndrome
tonic pupil(s) and absent
deep tendon reflexes
concurrent involvement of
the ciliary and dorsal root
ganglia
C) Light-Near Dissociation:
 Abnormal
size
(Anisocoria):





"Tonic pupil"
Local ocular process
affecting the ciliary ganglion
or short ciliary nerves, e.g.
eye or orbital trauma,
sarcoidosis
viral illnesses (e.g., varicella)
ischemia (e.g., GCA)
strabismus surgery Orbital
tumors
-
Autonomic dysfunction
neuro-syphilis
advanced DM
dys-autonomias e.g. Riley Day
amyloidosis
Guillian Barre syndrome