TERATOLOGY (ANAT 401)

LECTURER: MRS OGUNBIYI

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Presentation Outline Introduction

Today's Topics Microphthalmia: Causes and Treatment

Anophthalmia

Types and Causes of Anophthalmia

Diagnosis and Treatment of Anophthalmia

References
INTRODUCTION

Anophthalmia and microphthalmia are birth

defects of a baby’s eye.
Anophthalmia is a birth defect where a baby is
born without one or both eyes. Microphthalmia is a
birth defect in which one or both eyes did not
develop fully, so they are small.
 What is Anolphthalmia and Microphthalmia?
Anophthalmia and microphthalmia develop during
pregnancy and can occur alone, with other birth defects,
or as part of a syndrome. Anophthalmia and
microphthalmia often result in blindness or limited
vision.
The birth defect occurs due to a problem
during development of the tissues that
normally form the eye, resulting in
congenital blindness. Incidence is around
3 per 100,000 population with no
male/female or racial predominance.
 MICROPHTHALMIA

It is also referred to as microphthalmos in which micros

mean small and ophthalmos means eye. It’s derived from
the Greek language meaning “small eye”.
It is a disorder in which a single eye or both eyes are small
and have abnormal functions of the eyes. They are called
unilateral microphthalmia and bilateral microphthalmia
respectively. This condition can sometimes cause loss of
vision or blindness in children. It affects about 3-11% of
children from the entire population who are blind.

 CAUSES OF MICROPHTHALMIA

This condition is caused by the following reasons such as:

1. Infections such as herpes simplex virus, rubella. And cytomegalovirus (CMV) during
pregnancy causes microphthalmia disease in children.
2. Fetal alcohol syndrome can also be a reason but there is inconclusive evidence to prove
this.
3. Sometimes abnormalities in chromosomes can cause microphthalmia by genetic
factors.
4. Triploid syndrome
5. 13q deletion syndrome
6. Monogenetic Mendelian disorders
 TREATMENT OF MICROPHTHALMIA
There is no cure for microphthalmia condition as the patient is born
with it. Sometimes by the use of plus optics, the sight of the eye is
maintained in microphthalmia. Since in microphthalmia, the eye size
is small.

ANOPHTHALMIA

It is a condition that is seen when one or both eyes are absent. Both
the eyeball as well as the ocular tissue are absent in this case.
 TYPES OF ANOPHTHALMIA

Depending on the severity of the condition and the amount of eye

tissue present, anophthalmia can be classified as:
1. True anophthalmia: where there is complete absence of eye tissues.

2. Extreme microphthalmia: where a small globe of tissue is present

instead of the eye.

3. Clinical anophthalmia: which is an intermediate condition between

true anophthalmia and extreme microphthalmia.
Anophthalmia may also be classified based on causes as:
• Primary anophthalmia, where there is no development of the eye
(optic pit failure).
• Secondary anophthalmia, where development of the eye starts but
stops during the process (anterior neural tube defect).
• Degenerative anophthalmia, where the eye begins to form but later
undergoes degenerative changes during fetal life.
 CAUSES OF ANOPHTHALMIA

Anophthalmia arises due to a genetic mutation. The defect has been noted either
in a single gene or an entire chromosome. Mutations in the SOX2 gene have
been implicated in the condition.
Alternatively, an entire chromosome may be absent or may be duplicated or may
undergo translocation, where a segment of a chromosome is transferred to a
different chromosome. These mutations may be associated with other features
like corneal sclerosis, cataract, optic disc problems, mental retardation and facial
dysmorphisms.
 Some of the factors that may increase the risk for anophthalmia include:
• Maternal age over 40 years.
• Multiple births
• Low birth weight
• Premature delivery
• Exposure to radiation including x-rays during pregnancy
• Exposure to certain chemicals, drugs, pesticides or alcohol during pregnancy. The drugs thalidomide and
warfarin have been implicated
• Certain viral infections during pregnancy like German measles, toxoplasmosis, varicella and
cytomegalovirus
• Vitamin A deficiency in mother
• Misuse of solvents by the mother during pregnancy
• What are the Symptoms and Signs of Anophthalmia?
• Anophthalmia is diagnosed at birth on noting an empty eye socket. The eye socket may be smaller in
size. The tear gland and eye muscles are usually absent. Children who have not been treated soon after
birth may have a problem with development of the affected side of the face resulting in asymmetry.
• Other body systems may also be affected when anophthalmia is a part of a syndrome. For example,
lung, heart and learning defects occur along with anophthalmia in patients with mutations of the STRA6
gene.

 DIAGNOSIS OF ANOPHTHALMIA
It is done in two ways. And they are:
1. Prenatal Diagnosis
2. Postnatal Diagnosis

I. Prenatal Diagnosis
In this, the diagnosis of the disease is done by ultrasounds and amniocentesis. Using ultrasounds, the disease is diagnosed during
gestation. The diagnosis of the disease is not possible until the second trimester due to the resolution of ultrasound.20 Weeks is the
earliest time taken for detection of anophthalmia.

Amniocentesis: This condition can only show anophthalmia when the chromosomes are abnormal. But chromosomal abnormality
is seen in minor cases of anophthalmia
.
II. Postnatal Diagnosis
• The use of MRIs or CT scans helps in scanning the brain and the orbits and help in identifying anophthalmia condition.
• Some of the doctors perform genetic tests, which helps in identifying anophthalmia. These tests include microarray analysis as
well as single-gene testing.
• If the single-gene testing fails in diagnosing the disease, then genome sequencing and mitochondrial sequencing are considered
which helps in molecular diagnosis of the anophthalmia condition.

 TREATMENT FOR ANOPHTHALMIA

Since there is no chance of treating vision

loss but the absence of the eye can be treated
or can be made unnoticeable by methods
such as prosthetic eye and cosmetic surgery.

Prosthetic Eye

Conformers and expanders are used to increase the growth of the eye socket and
expansion of the socket respectively. After the first two years of life, the conformers need
to be changed. Later, a prosthetic eye is fitted inside the socket of the eye. The prosthetic
eye is not rubbed with alcohol so that it does not cause any problems with the patient’s
eye. Checking must be done regularly to see that the prosthetic eye is fitted properly or
not.
 Cosmetic Surgery

Sometimes physical deformities are seen in children when there is an improper expansion of the
eye orbit. So, to treat the physical deformities, surgery needs to be performed.
Many people get upper ptosis surgery or lower eyelid tightening surgery which helps in restoring
the functions of the eye structures such as eyelids so that the appearance of the face is best.
People who are suffering from degenerative anophthalmia get this cosmetic surgery commonly.

Girl with anophthalmia undergoing sequential socket expansion

using solid shapes. (a) 5 months old, (b) 15 months old, (c) 21
months old, (d) 2 years 2 months old, (e) 3 years 10 months, (f) 5
years 3 months.
 REFERENCE:

1. Dr simi paknikar, MD. Medically Reviewed by Dr .S. Fernarndo,

MBBS on June 24, 2016. Anophthalmia.
2. N K Ragge, JRO Collin 2007. Management ofanophthalmia and
microphthalmia.