Isolated Microphthalmos

At a Glance

Isolated microphthalmia is a congenital ophthalmic disease in which the size of the eyeball is smaller than normal from birth.

One or both eyeballs may appear small, vision may decrease, and abnormalities in other eye structures such as the retina, optic nerve, and cornea may also occur.

How the Disease Works

The cause may be related to abnormalities in the process of eye development during the embryonic stage, and genetic factors or prenatal environmental factors may be involved, but there are also cases where the cause cannot be specified.

If the process of eyeball formation or growth during the embryonic stage does not proceed sufficiently, the size of the eyeball and some internal structures may be small.

Patterns Vary by Person

Symptoms and vision may vary depending on the number of affected eyes, the degree of reduced eyeball size, associated structural abnormalities, family history, and an individual's genetic background.

Broad framework of diagnosis and management

Isolated microphthalmia is often discovered around the time of birth, and the risk to visual development and complications may vary depending on the growth process and associated abnormalities in eye structure.

Diagnosis is based on ophthalmic examination and comparison of both eyes; the structure of the eyeball, optic nerve, and retina can be evaluated using ocular biometry, ultrasound, or magnetic resonance imaging (MRI).

Current stage of treatment

Since it is difficult to diagnose based on visible eye size alone, the structure and length of the eyeball must be examined together when distinguishing from similar conditions such as anophthalmia, microcornea, and nanoophthalmia.

Management is conducted long-term, centered on pediatric ophthalmology, and may include correction of refractive errors, prevention and treatment of amblyopia, visual rehabilitation, and treatment of complications if necessary.

The goal of treatment is not to return an already small eyeball to a normal size, but rather to preserve remaining visual function and reduce functional and structural problems.

How to read clinical trials

In follow-up observations, changes in vision, refractive status, intraocular pressure, and ocular structure are monitored, particularly during the period of visual development; clinical trials should focus on pre-determined safety and visual function-related outcomes rather than the decision to participate.

Points to verify in clinical encounters

In clinical practice, it is important to check which eye is involved, current visual acuity and refractive status, presence of amblyopia, structural abnormalities visible on imaging, family history, the necessity of genetic testing, and the interval for follow-up observation.