Conjunctival telangiectasia is a finding in which dilated microvessels are present near the mucosal surface of the conjunctiva. It is not an independent disease but often appears as an ocular manifestation of various systemic diseases. It is broadly classified into primary telangiectatic diseases and secondary forms associated with systemic diseases.
| Classification | Representative Diseases |
|---|---|
| Primary | AT, HHT, Bloom syndrome |
| Secondary | Rosacea, Fabry disease, Diabetes mellitus |
Conjunctival telangiectasia can be seen in various diseases, but even when accompanied by cerebellar ataxia, conjunctival telangiectasia and cerebellar ataxia do not necessarily share a common cause1).
Conjunctival telangiectasia itself usually does not require treatment. However, since this finding may be an ocular manifestation of important systemic diseases such as ataxia telangiectasia and Fabry disease, it is important to investigate the underlying cause. In hereditary hemorrhagic telangiectasia with recurrent bleeding, cauterization may be performed.
Conjunctival telangiectasia itself is usually asymptomatic. Depending on the underlying disease, it may be accompanied by conjunctival hyperemia, foreign body sensation, lacrimation, recurrent subconjunctival hemorrhage, and bloody tears. In hereditary hemorrhagic telangiectasia (HHT), recurrent subconjunctival hemorrhage and bloody tears are observed.
Slit-lamp examination reveals tortuous and dilated microvessels on the conjunctival surface. In ataxia telangiectasia (AT), they first appear in the area away from the limbus between the palpebral fissures and eventually spread diffusely. In HHT, spider-like vascular malformations are seen on the palpebral conjunctiva. In Fabry disease, telangiectasia and blood stasis are observed in the inferior bulbar conjunctiva.
In von Hippel-Lindau (VHL) syndrome, marked dilation and tortuosity of conjunctival and episcleral vessels may be seen2).
Ataxia telangiectasia (AT)
Inheritance: Autosomal recessive
Frequency: Conjunctival telangiectasia is present in 91% of patients
Age of onset: Appears at 3–5 years of age
Associated symptoms: Progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, high risk of malignancy
Hereditary Hemorrhagic Telangiectasia (HHT)
Inheritance: Autosomal dominant
Age of onset: Usually in the 40s
Ocular symptoms: Spider-like malformations of the palpebral conjunctiva, recurrent subconjunctival hemorrhage, bloody tears
Associated symptoms: Arteriovenous malformations in multiple organs (lungs, brain, gastrointestinal tract, liver), recurrent epistaxis
Other conditions include Bloom syndrome (telangiectasia of the bulbar conjunctiva, rash on sun-exposed areas, short stature), and generalized essential telangiectasia (women, onset in late 30s, spreads from legs to whole body).
Evaluate the distribution, morphology, and extent of dilated microvessels in the conjunctiva. In AT, a characteristic pattern is observed that initially appears in the interpalpebral fissure and then spreads generally. In HHT, spider-like malformations are observed.
Differentiation from conjunctival injection is important. Conjunctival injection is stronger in the fornix and weaker near the limbus, whereas telangiectasia is a persistent vascular dilation and differs from injection.
If conjunctival telangiectasia and cerebellar ataxia are present, AT syndrome is suspected, but if serum alpha-fetoprotein is normal, other diseases should be considered 1). In spinocerebellar ataxia type 3 (SCA3/Machado-Joseph disease), cerebellar ataxia and conjunctival telangiectasia may coexist due to different causes 1).
If conjunctival telangiectasia is found, consider the following systemic workup based on accompanying symptoms.
| Accompanying Symptoms | Suspected Disease |
|---|---|
| Cerebellar ataxia, immunodeficiency | AT syndrome |
| Recurrent epistaxis, AVM | HHT |
| Whorl-like corneal opacity and pain attacks | Fabry disease |
Conjunctival hyperemia is a transient vasodilation associated with inflammation or irritation, stronger in the fornix and weaker near the limbus. It improves with the use of eye drops or removal of the cause. In contrast, conjunctival telangiectasia is a structural dilation of the vessel wall and persists continuously. It may suggest an underlying disease, so differentiation is important.
Conjunctival telangiectasia itself usually does not require treatment. Management of the underlying disease is prioritized.
In HHT, cautery may be used for recurrent conjunctival bleeding.
In AT syndrome, there is no effective ophthalmic treatment; systemic management and infection prevention are central. In Fabry disease, enzyme replacement therapy is the basis of systemic management. In cases associated with rosacea, treatment of blepharitis (warm compresses, antibiotics) is the main management.
It depends on the underlying cause of conjunctival telangiectasia. Ataxia telangiectasia (AT) is autosomal recessive, and hereditary hemorrhagic telangiectasia (HHT) is autosomal dominant, both hereditary. In cases associated with rosacea or diabetes, there is no direct inheritance, but family history can be a risk factor. Genetic counseling is recommended if a genetic background is suspected.
AT syndrome is an autosomal recessive disorder caused by mutations in the ATM gene located on 11q23. The ATM protein is involved in the repair of DNA double-strand breaks, and its deficiency leads to impaired DNA repair. Conjunctival telangiectasias appear around 3–6 years of age, developing after the onset of progressive cerebellar ataxia. Patients have humoral and cellular immune abnormalities due to hypoplasia of the thymus and lymphoid tissues, and there is a high incidence of malignant tumors (leukemia, malignant lymphoma).
HHT is a vascular malformation caused by mutations in the endoglin (ENG) gene or the ACVRL1 gene. Impaired TGF-β signaling leads to structural fragility of blood vessel walls, resulting in telangiectasias and arteriovenous malformations throughout the body. In the conjunctiva, it appears as spider-like hemangiomatous malformations.
In VHL syndrome, mutations in the VHL gene impair the degradation of HIF (hypoxia-inducible factor), leading to excessive production of VEGF. This can cause marked dilation of conjunctival and episcleral vessels, in addition to retinal and cerebellar hemangioblastomas2).
