Microphthalmia

Microphtalmia
Ocular malformations induced by teratogen exposure
acute exposure to teratogen during early gastrulation
stages deficiency of the neural plate with subsequent
reduction in size of optic vesicle Microphthalmia
Associated with anterior segment dysgenesis, cataract, and
persistence of the primary vitreous
Deficiency in size of the globe is often associated with a
corresponding small palpebral fissure
Microphthalmia associated with colobomas (Colobomatous
Microphthalmia), may be associated with orbital or eyelid
cysts

Microphtalmia
Nanophthalmos is a rare form of congenital
microphthalmos and has also been referred to as pure
microphthalmos
The hallmark features include: severe hyperopia (> 10 D),
short total axial length (16 18,5 mm), presence of
microcornea, marked iris convexity and shallow anterior
chamber due to crowding by a normal size lens
predisposing to angle-closure glaucoma in the 4 5 decade
of life, abnormally thickened and inelastic sclera (more
sclerotic) with age increased resistance to vortex vein
outflow uveal effusions and choroidal detachment
Microphtalmia
Usually bilateral, in unilateral cases the side of the face or
ipsilateral body is sometimes poorly developed
The majority of the cases are sporadic, strong hereditary
factor, both recessive and dominant
Simple Microphthalmos
eye small but is otherwise essentially normal
associated with systemic developmental anomalies (fetal
alcohol syndrome, diabetic embryopathy, myotonic
dystrophy, achondroplasia, pseudotrisomy 18, mental
retardation, isolated growth hormone deficiency,
micropolysaccharidosis VI, and mucolipidosis III)
Microphtalmia
Complex Microphthalmos
small malformed eye, five categories of ocular
malformation: Anterior Segment Dysgenesis, Abnormal
Lens, Colobomas, Persistent Hyperplastic Primary
Vitreous (PHPV), Retinal Dysplasia
the ocular malformations may appear as isolated
abnormalities or as part of a systemic disorder