Summary about Disease
Nanophthalmos is a rare congenital eye disorder characterized by abnormally small eyeballs. Despite the small size, the eye structures are typically normal in proportion. It is often associated with hyperopia (farsightedness) and a high risk of angle-closure glaucoma due to the crowded anterior chamber.
Symptoms
Small eyeballs (bilateral in most cases)
High hyperopia (farsightedness)
Angle-closure glaucoma (potential)
Thickened sclera
Narrowed palpebral fissures (eyelid openings)
Possible retinal detachment
Possible uveal effusion (fluid accumulation in the eye)
Causes
Nanophthalmos is primarily a genetic condition. Mutations in several genes have been associated with the disease, including:
MFRP (Membrane Frizzled-Related Protein)
TMEM98 (Transmembrane Protein 98)
PRSS56 (Protease, Serine 56)
These genes are involved in eye development and scleral growth. Inheritance patterns can be autosomal recessive or autosomal dominant depending on the gene involved. Sporadic cases (without a clear genetic cause) can also occur.
Medicine Used
Treatment focuses on managing complications:
Eyeglasses or contact lenses to correct hyperopia.
Eye drops (miotics or alpha-adrenergic agonists) to manage intraocular pressure (glaucoma).
Laser peripheral iridotomy (LPI) to prevent or treat angle-closure glaucoma.
Surgery (e.g., trabeculectomy, lens extraction) to control glaucoma if medications and LPI are insufficient.
Steroids can be used to treat uveal effusion but should be used cautiously and sparingly.
Is Communicable
No, nanophthalmos is NOT communicable. It is a genetic condition, not an infectious disease.
Precautions
Genetic counseling is important for families with a history of nanophthalmos to understand the risk of recurrence.
Regular eye examinations are crucial for early detection and management of complications like glaucoma and retinal detachment.
Avoid activities that increase the risk of eye trauma.
Inform your ophthalmologist about your condition before any eye surgery, as nanophthalmic eyes have a higher risk of complications.
How long does an outbreak last?
Nanophthalmos is not an infectious disease and does not have outbreaks. It is a congenital condition present from birth. Management of symptoms and complications is ongoing throughout the individual's life.
How is it diagnosed?
Comprehensive eye examination by an ophthalmologist:
Refraction to determine refractive error (hyperopia)
Measurement of axial length (using ultrasound or optical biometry)
Gonioscopy to assess the angle of the anterior chamber
Intraocular pressure measurement
Dilated fundus examination to evaluate the retina and optic nerve
Genetic testing: To identify specific gene mutations associated with nanophthalmos.
B-scan ultrasonography: To assess scleral thickness and rule out uveal effusion.
Timeline of Symptoms
Nanophthalmos is typically present at birth, but the diagnosis might be delayed until vision problems are noticed.
High hyperopia is usually evident in early childhood.
Glaucoma can develop at any age, but is more common in adulthood.
Retinal detachment and uveal effusion can occur at any time, but are more likely after intraocular surgery.
Important Considerations
Surgical intervention in nanophthalmic eyes carries a higher risk of complications such as uveal effusion syndrome, choroidal detachment, and malignant glaucoma.
Careful preoperative planning and surgical technique are essential to minimize these risks.
Prophylactic sclerotomies (surgical openings in the sclera) may be considered to prevent uveal effusion syndrome during intraocular surgery.
Close postoperative monitoring is crucial for early detection and management of complications.
Patients with nanophthalmos should be managed by an ophthalmologist experienced in this condition.