Ocular Ortner Syndrome (OOS) is a rare condition in which visual impairment due to ocular ischemia is combined with Ortner syndrome, which causes hoarseness due to recurrent laryngeal nerve compression from cardiovascular disease.
The concept of Ortner syndrome dates back to 1897. Austrian internist Ortner first reported a condition in which left atrial enlargement due to mitral stenosis compresses the left recurrent laryngeal nerve, leading to laryngeal paralysis and hoarseness. Later, the concept expanded to include recurrent laryngeal nerve compression from various cardiovascular diseases such as aortic dissection, thoracic aortic aneurysm, and pulmonary hypertension.
OOS is a further development of this concept.
Reported cases are extremely rare, and epidemiological data are largely unestablished. It usually occurs in patients with underlying large-vessel vasculitis (GCA or Takayasu arteritis). Giant cell arteritis is more common in Caucasians over 50, and about 20% present with vision loss without systemic symptoms (occult GCA).
Typical Ortner syndrome is a condition caused by compression of the recurrent laryngeal nerve due to cardiovascular disease, resulting only in hoarseness. OOS differs in that, in addition to this, inflammation of the large vessels causes stenosis of the common carotid and internal carotid arteries, leading to visual impairment due to ocular ischemia. It is a new disease concept first reported in 2005.
It should be noted that OOS may be the initial manifestation of large vessel vasculitis.
The main cause of OOS is large vessel vasculitis.
Giant Cell Arteritis
Characteristics: Large vessel vasculitis that commonly occurs in older adults aged 50 years and above.
Ocular complications: Anterior ischemic optic neuropathy (AION) occurs due to occlusion of the ophthalmic artery and posterior ciliary arteries.
Note: About 20% of cases present with only vision loss without systemic symptoms (occult GCA).
Takayasu arteritis
Features: Large-vessel vasculitis common in young adults (mainly women).
Ocular complications: Ocular ischemic syndrome (OIS) occurs due to stenosis of the common carotid and internal carotid arteries.
Note: Differences in pulse between arms or blood pressure differences in the upper limbs are diagnostic clues.
In typical Ortner syndrome that does not progress to OOS, the following cardiovascular diseases compress the recurrent laryngeal nerve.
In addition to large vessel vasculitis (GCA, Takayasu arteritis), various conditions such as mitral stenosis, aortic dissection, thoracic aortic aneurysm, and pulmonary hypertension can cause it. In OOS, large vessel vasculitis leads to stenosis of the common carotid and internal carotid arteries, characteristically complicated by ocular ischemia.
The diagnosis of OOS is based on the combination of hoarseness, ocular symptoms, inflammatory findings, and identification of the underlying disease.
This is the gold standard for diagnosing giant cell arteritis. Steroid therapy may be started without waiting for the result (see “Standard Treatment” section).
Used to confirm vocal cord paralysis. In the case by Lo et al., direct laryngoscopy confirmed left vocal cord paralysis1).
It is useful for identifying choroidal ischemia and choroidal filling defects due to giant cell arteritis.
For OOS caused by large-vessel vasculitis (especially GCA), immediate treatment with high-dose corticosteroids is standard.
In cases of suspected giant cell arteritis, immediate initiation of steroids is essential to prevent vision loss in the contralateral eye and vascular occlusion in other sites. If diabetes is present, special attention to blood glucose control is required.
In Ortner syndrome caused by a thoracic aortic aneurysm, surgical treatment is selected.
Leoce et al. (2021) performed a staged hybrid repair (right-to-left carotid-carotid bypass plus stent graft placement) in an 88-year-old man with Ortner syndrome due to a saccular thoracic aortic aneurysm (4.3×5.2×5.0 cm, zone 1–3)2). One month after surgery, hoarseness showed mild improvement.
Ocular ischemia due to giant cell arteritis rapidly causes irreversible damage to the optic nerve and retina. Waiting for biopsy results (which usually take several days to a week) may allow blindness in the contralateral eye or vascular occlusion in other sites to occur. Therefore, when giant cell arteritis is clinically suspected, steroids should be started immediately, and biopsy should be performed as early as possible after initiation.
Hoarseness in OOS occurs via two pathways.
Left Recurrent Laryngeal Nerve
Course: Runs close to the aortic arch.
Vulnerability: Easily affected by aortitis, aortic dilation, and aortic dissection.
Clinical significance: This is also why most cases of Ortner syndrome present with left-sided hoarseness.
Right recurrent laryngeal nerve
Course: Runs close to the right subclavian artery.
Vulnerability: Easily affected by vasculitis or aneurysm of the right subclavian artery.
Clinical significance: In cases of right-sided hoarseness, it serves as a clue to suspect a right subclavian artery lesion.
When inflammation extends to the common carotid artery and internal carotid artery, luminal stenosis occurs. This reduces blood flow to the downstream retina and optic nerve, leading to the following conditions.
Proliferation of immune cells (mainly lymphocytes and macrophages) in the media and adventitia leads to thickening and dilation of the vessel wall. In giant cell arteritis, granulomatous inflammation of large vessels is characteristic.
Lo et al. (2021) reported a case of hoarseness for one year due to left recurrent laryngeal nerve compression caused by an aortic isthmus aneurysm with dissection (extending from distal to the left subclavian artery origin to distal to the left common iliac artery) in a 56-year-old man1). In this case, aortic dissection was complicated by pneumothorax, and it has been suggested that increased intrathoracic pressure due to tension pneumothorax may have triggered the dissection1).
OOS is an extremely rare disease, and large-scale clinical studies or randomized controlled trials (RCTs) do not exist. Current knowledge is based solely on case reports or small case series.
In the literature on Ortner syndrome overall, 76 cases have been reported, with only 24 cases attributed to thoracic aortic aneurysms2). With the aging of society, the prevalence of Ortner syndrome due to thoracic aortic aneurysms may increase2).
For thoracic aortic arch aneurysms (zone 1–2), a staged minimally invasive approach (carotid artery bypass followed by stent-graft placement) is increasingly recommended to reduce the risk of cerebrovascular complications2).
