Grand Rounds at the New England Eye Center

Man evaluated for asymmetric eyelids

Examination found right enophthalmos and right lid lag on downgaze.

A 56-year-old male property manager with no ocular history was referred to the New England Eye Center by an outside ophthalmologist for evaluation of eyelid asymmetry. For 5 months, the patient had noticed that his left upper eyelid appeared lower than his right upper eyelid. He felt the position of his eyelids changed through the day and seemed more equal after rest. He had no diplopia or difficulty moving his eyes. He did not report any palpitations, heat/cold intolerance or weight fluctuations, although he did endorse lower energy over the last few years. A few years before presentation, he was involved in a motor vehicle accident and sustained head injuries but reportedly had no eye trauma.

His medical history included coronary artery disease requiring stent, hyperlipidemia, Lyme disease (diagnosed and appropriately treated in 2004) and high ferritin. His surgical history included a tonsillectomy. He was taking aspirin, clopidogrel and atorvastatin, and underwent regular therapeutic phlebotomies. He had allergies to beta-blockers and penicillin. He denied any drug, alcohol or tobacco use.

Examination

Initial examination revealed visual acuity without correction of 20/20-2 in the right eye and 20/20-1 in the left. Both pupils were round and briskly reactive to light, measuring 4 mm in dim light and 2 mm in bright light. IOPs were 20 mm Hg in the right eye and 21 mm Hg in the left eye. Visual fields were full to confrontation bilaterally.

Extraocular movements were full. There was 1 D left hypertropia in primary gaze and in all directions of gaze.

Hertel exophthalmometry measured 16 mm in the right eye and 18 mm in the left eye. Examination of the eyelids revealed a margin reflex distance 1 (MRD1) of 6 mm with a 12 mm palpebral fissure. The MRD1 on the left was 4.5 mm with a 11 mm palpebral fissure. The levator function was intact bilaterally at 16 mm of lid elevation. On the right, there was 1 mm to 2 mm of superior scleral show in upgaze, 0.5 mm of lagophthalmos that was worse after sustained upgaze, and mild lid lag on downgaze. There was no Cogan’s lid twitch or change in contralateral lid position with elevation of the left upper lid.

Slit lamp examination of the anterior segment was unremarkable. Retinal examination showed normal optic nerves and macula. Thyroid studies and acetylcholine receptor antibodies were all within normal limits.

The patient returned 3 months later with subjectively worsening asymmetry of his eyelids. He also noticed double vision when reading that improved with occlusion of either eye. Examination of the lid function and position was unchanged. However, he had a worsening left hypertropia and a mild exophoria at near.

What is your diagnosis?

See answer on next page.

Lid changes

The differential diagnosis for lid changes with relative enophthalmos or exophthalmos and new diplopia in a 56-year-old includes thyroid eye disease, contracture after orbital blowout fracture, orbital tumor, orbital infection, silent sinus syndrome, mucocele, scirrhous carcinoma leading to contraction of orbital fat, Parry-Romberg syndrome, congenital facial asymmetry, malignant sinus infiltration and pseudoenophthalmos.

In thyroid eye disease, patients can present with eyelid changes such as eyelid retraction (Dalrymple’s sign), lid lag of the upper eyelid on downgaze (von Graefe’s sign), lid edema and lagophthalmos, as well as exophthalmos and a new tropia. Despite the patient’s normal thyroid studies, a small proportion of patients with thyroid eye disease are euthyroid on initial presentation. Therefore, thyroid eye disease was a top consideration in our patient.

With the patient’s history of head injury after a motor vehicle accident, one must also consider post-traumatic changes after an orbital fracture. Orbit contracture can cause enophthalmos and/or lid changes. Given that he had imaging at the time of the accident that did not reveal any orbital injury, this is less likely.

Orbital tumors or infection can lead to proptosis and eyelid changes. Orbital cellulitis presents with erythema and edema of the eyelid with secondary ptosis. Extraocular muscles can become compromised, leading to diplopia. Our patient’s history is less suggestive of an infection given the chronic time course and slow development of diplopia multiple months after eyelid changes, as well as the absence of pain, erythema or edema of the lids.

Silent sinus syndrome can cause enophthalmos and hypoglobus as well as eyelid changes. Typically, the syndrome occurs in patients without clinical symptoms of sinus disease. Therefore, this is an important consideration in our patient. Enophthalmos is present in nearly all cases (98% to 100%) and can range from 2 mm to 6 mm. Our patient had 2 mm of relative enophthalmos of the right eye. Hypoglobus is less common than enophthalmos (53% in a large case study). The degree of hypoglobus can range from 1 mm to 6 mm. The incidence of upper eyelid position change is high (up to 88%). Pseudoretraction was seen in the large majority of these patients (90%) due to inferior displacement of the globe (pseudo-von Graefe’s sign). Pseudoptosis occurs due to deepening of superior sulcus and lower relative position of the upper eyelid. Diplopia due to limitation of the superior and inferior oblique muscles or inferior rectus fibrosis is noted in 28% to 65% of cases.

Mucoceles can masquerade as many orbital conditions due to mass effect causing proptosis, globe displacement, diplopia, eyelid swelling, pain, headache, restricted ocular motility and even optic neuropathy from compression, ischemia or inflammation. They can also cause lid ecchymosis, ptosis, increased IOP and epiphora. Therefore, they can mimic many ophthalmic conditions. Twenty-eight percent of all patients with mucoceles present with eye-related problems, so it is critical to include mucocele when evaluating a patient with these findings.

opacified and mildly atelectatic right maxillary sinus
Figure 1. MRI showing opacified and mildly atelectatic right maxillary sinus with an occluded infundibulum and inspissated secretions within the sinus.

Source: Sarah Adelson, MD, and Thomas R. Hedges III, MD

Scirrhous carcinomas leading to fat contraction is most often associated with breast cancer, although it can also occur from gastrointestinal tract cancer. Congenital facial asymmetry would usually present in infancy or childhood, rather than in adulthood. Parry-Romberg syndrome is a disease with degeneration of tissues beneath the skin. This can cause enophthalmos due to regression of subcutaneous tissue around the orbit. However, this usually involves the entire side of the face, with other signs such as skin pigment changes, trigeminal neuralgia and dental abnormalities.

Further workup and management

right maxillary infundibulum occluded by mucosal thickening and atelectatic
Figure 2. CT maxillofacial in bone window demonstrating right maxillary infundibulum occluded by mucosal thickening and atelectatic, completely opacified right maxillary sinus, with some hyperdense material centrally and likely submucosal edema peripherally.

An MRI of the brain and orbits with contrast was obtained to evaluate for evidence of thyroid eye disease or an orbital mass and to exclude infection or fracture. Prisms were given for glasses for symptomatic relief in the meantime. The MRI showed an opacified and atelectatic right maxillary sinus with an occluded infundibulum (Figure 1). There was leftward nasal septal deviation and enophthalmos of the right globe. The patient was diagnosed with silent sinus syndrome and referred to ENT for further management. The ENT team ordered a CT maxillofacial for surgical planning (Figure 2) and then performed an endoscopic right maxillary antrostomy with uncinectomy to relieve the pressure in the right maxillary sinus, allowing it to drain.

Discussion

Silent sinus syndrome is characterized by enophthalmos caused by collapse of the orbital floor secondary to asymptomatic chronic maxillary sinusitis. It occurs in men and women equally, primarily in their 30s and 40s. Risk factors include aberrant nasal anatomy such as ipsilateral nasal septum deviation, laterally deviated middle turbinate or infundibular wall, or a narrow/occluded infundibular passage from a mechanical blockage such as a mucocele, a polyp, inflamed nasal mucosa or infraorbital ethmoid air cells.

Although the mechanism is not fully understood, it is thought that there is a flap-valve occlusion of the sinus that allows for gas resorption and development of negative pressure within the sinus. The sinus is then filled with mucus and transudate due to resorption of mucosal secretions. This creates low-grade inflammation and leads to demineralization of the bony orbital floor. Due to the weakening of the floor and negative pressure in the sinus, the floor collapses, leading to what we know as silent sinus syndrome. It may also be associated with previous orbital decompression due to prolapsed fat into the infundibulum occluding the maxillary sinus ostium or removal of the bone piece important in maintaining the normal maxilla-ethmoidal interface and sinus aeration during surgery.

The diagnosis of silent sinus syndrome is made when a patient has spontaneous enophthalmos or hypoglobus in the absence of any symptoms of sinusitis, related ophthalmic history or documented congenital deformity. Imaging shows contraction of the maxillary sinus. CT of the sinus is most useful in showing maxillary sinus shrinkage with focal bone loss. It may also show abnormal nasal anatomy.

Management includes consultation with ENT to perform an antrostomy with or without uncinectomy. This is currently the gold standard treatment. Concurrent or subsequent orbital floor repair is controversial. One study of 16 patients showed that only a small minority of patients (12.5%) needed orbital floor repair. Another case study concluded that antrostomy alone reduced enophthalmos 1 mm to 2 mm without any need for orbital floor repair. It is, therefore, advised to wait 6 months after surgery to observe for resolution of symptoms. After 6 months, if symptoms and orbital signs are still unresolved, then consider the need for further surgery with orbital floor repair.

Follow-up

Our patient returned to clinic 1.5 months after right maxillary antrostomy with complete resolution of his diplopia. Repeat exophthalmometry measured 18 mm bilaterally. Lid position had improved with an MRD1 of 5 on the right and 4.5 on the left. Palpebral fissures were equal at 11 mm. There was no lagophthalmos, lid lag or lid retraction noted. Ocular alignment had returned to orthophoria in all positions. The prism glasses were discontinued. He did not require any subsequent orbital floor repair after antrostomy.

A 56-year-old male property manager with no ocular history was referred to the New England Eye Center by an outside ophthalmologist for evaluation of eyelid asymmetry. For 5 months, the patient had noticed that his left upper eyelid appeared lower than his right upper eyelid. He felt the position of his eyelids changed through the day and seemed more equal after rest. He had no diplopia or difficulty moving his eyes. He did not report any palpitations, heat/cold intolerance or weight fluctuations, although he did endorse lower energy over the last few years. A few years before presentation, he was involved in a motor vehicle accident and sustained head injuries but reportedly had no eye trauma.

His medical history included coronary artery disease requiring stent, hyperlipidemia, Lyme disease (diagnosed and appropriately treated in 2004) and high ferritin. His surgical history included a tonsillectomy. He was taking aspirin, clopidogrel and atorvastatin, and underwent regular therapeutic phlebotomies. He had allergies to beta-blockers and penicillin. He denied any drug, alcohol or tobacco use.

Examination

Initial examination revealed visual acuity without correction of 20/20-2 in the right eye and 20/20-1 in the left. Both pupils were round and briskly reactive to light, measuring 4 mm in dim light and 2 mm in bright light. IOPs were 20 mm Hg in the right eye and 21 mm Hg in the left eye. Visual fields were full to confrontation bilaterally.

Extraocular movements were full. There was 1 D left hypertropia in primary gaze and in all directions of gaze.

Hertel exophthalmometry measured 16 mm in the right eye and 18 mm in the left eye. Examination of the eyelids revealed a margin reflex distance 1 (MRD1) of 6 mm with a 12 mm palpebral fissure. The MRD1 on the left was 4.5 mm with a 11 mm palpebral fissure. The levator function was intact bilaterally at 16 mm of lid elevation. On the right, there was 1 mm to 2 mm of superior scleral show in upgaze, 0.5 mm of lagophthalmos that was worse after sustained upgaze, and mild lid lag on downgaze. There was no Cogan’s lid twitch or change in contralateral lid position with elevation of the left upper lid.

Slit lamp examination of the anterior segment was unremarkable. Retinal examination showed normal optic nerves and macula. Thyroid studies and acetylcholine receptor antibodies were all within normal limits.

The patient returned 3 months later with subjectively worsening asymmetry of his eyelids. He also noticed double vision when reading that improved with occlusion of either eye. Examination of the lid function and position was unchanged. However, he had a worsening left hypertropia and a mild exophoria at near.

What is your diagnosis?

See answer on next page.

PAGE BREAK

Lid changes

The differential diagnosis for lid changes with relative enophthalmos or exophthalmos and new diplopia in a 56-year-old includes thyroid eye disease, contracture after orbital blowout fracture, orbital tumor, orbital infection, silent sinus syndrome, mucocele, scirrhous carcinoma leading to contraction of orbital fat, Parry-Romberg syndrome, congenital facial asymmetry, malignant sinus infiltration and pseudoenophthalmos.

In thyroid eye disease, patients can present with eyelid changes such as eyelid retraction (Dalrymple’s sign), lid lag of the upper eyelid on downgaze (von Graefe’s sign), lid edema and lagophthalmos, as well as exophthalmos and a new tropia. Despite the patient’s normal thyroid studies, a small proportion of patients with thyroid eye disease are euthyroid on initial presentation. Therefore, thyroid eye disease was a top consideration in our patient.

With the patient’s history of head injury after a motor vehicle accident, one must also consider post-traumatic changes after an orbital fracture. Orbit contracture can cause enophthalmos and/or lid changes. Given that he had imaging at the time of the accident that did not reveal any orbital injury, this is less likely.

Orbital tumors or infection can lead to proptosis and eyelid changes. Orbital cellulitis presents with erythema and edema of the eyelid with secondary ptosis. Extraocular muscles can become compromised, leading to diplopia. Our patient’s history is less suggestive of an infection given the chronic time course and slow development of diplopia multiple months after eyelid changes, as well as the absence of pain, erythema or edema of the lids.

Silent sinus syndrome can cause enophthalmos and hypoglobus as well as eyelid changes. Typically, the syndrome occurs in patients without clinical symptoms of sinus disease. Therefore, this is an important consideration in our patient. Enophthalmos is present in nearly all cases (98% to 100%) and can range from 2 mm to 6 mm. Our patient had 2 mm of relative enophthalmos of the right eye. Hypoglobus is less common than enophthalmos (53% in a large case study). The degree of hypoglobus can range from 1 mm to 6 mm. The incidence of upper eyelid position change is high (up to 88%). Pseudoretraction was seen in the large majority of these patients (90%) due to inferior displacement of the globe (pseudo-von Graefe’s sign). Pseudoptosis occurs due to deepening of superior sulcus and lower relative position of the upper eyelid. Diplopia due to limitation of the superior and inferior oblique muscles or inferior rectus fibrosis is noted in 28% to 65% of cases.

PAGE BREAK

Mucoceles can masquerade as many orbital conditions due to mass effect causing proptosis, globe displacement, diplopia, eyelid swelling, pain, headache, restricted ocular motility and even optic neuropathy from compression, ischemia or inflammation. They can also cause lid ecchymosis, ptosis, increased IOP and epiphora. Therefore, they can mimic many ophthalmic conditions. Twenty-eight percent of all patients with mucoceles present with eye-related problems, so it is critical to include mucocele when evaluating a patient with these findings.

opacified and mildly atelectatic right maxillary sinus
Figure 1. MRI showing opacified and mildly atelectatic right maxillary sinus with an occluded infundibulum and inspissated secretions within the sinus.

Source: Sarah Adelson, MD, and Thomas R. Hedges III, MD

Scirrhous carcinomas leading to fat contraction is most often associated with breast cancer, although it can also occur from gastrointestinal tract cancer. Congenital facial asymmetry would usually present in infancy or childhood, rather than in adulthood. Parry-Romberg syndrome is a disease with degeneration of tissues beneath the skin. This can cause enophthalmos due to regression of subcutaneous tissue around the orbit. However, this usually involves the entire side of the face, with other signs such as skin pigment changes, trigeminal neuralgia and dental abnormalities.

Further workup and management

right maxillary infundibulum occluded by mucosal thickening and atelectatic
Figure 2. CT maxillofacial in bone window demonstrating right maxillary infundibulum occluded by mucosal thickening and atelectatic, completely opacified right maxillary sinus, with some hyperdense material centrally and likely submucosal edema peripherally.

An MRI of the brain and orbits with contrast was obtained to evaluate for evidence of thyroid eye disease or an orbital mass and to exclude infection or fracture. Prisms were given for glasses for symptomatic relief in the meantime. The MRI showed an opacified and atelectatic right maxillary sinus with an occluded infundibulum (Figure 1). There was leftward nasal septal deviation and enophthalmos of the right globe. The patient was diagnosed with silent sinus syndrome and referred to ENT for further management. The ENT team ordered a CT maxillofacial for surgical planning (Figure 2) and then performed an endoscopic right maxillary antrostomy with uncinectomy to relieve the pressure in the right maxillary sinus, allowing it to drain.

Discussion

Silent sinus syndrome is characterized by enophthalmos caused by collapse of the orbital floor secondary to asymptomatic chronic maxillary sinusitis. It occurs in men and women equally, primarily in their 30s and 40s. Risk factors include aberrant nasal anatomy such as ipsilateral nasal septum deviation, laterally deviated middle turbinate or infundibular wall, or a narrow/occluded infundibular passage from a mechanical blockage such as a mucocele, a polyp, inflamed nasal mucosa or infraorbital ethmoid air cells.

Although the mechanism is not fully understood, it is thought that there is a flap-valve occlusion of the sinus that allows for gas resorption and development of negative pressure within the sinus. The sinus is then filled with mucus and transudate due to resorption of mucosal secretions. This creates low-grade inflammation and leads to demineralization of the bony orbital floor. Due to the weakening of the floor and negative pressure in the sinus, the floor collapses, leading to what we know as silent sinus syndrome. It may also be associated with previous orbital decompression due to prolapsed fat into the infundibulum occluding the maxillary sinus ostium or removal of the bone piece important in maintaining the normal maxilla-ethmoidal interface and sinus aeration during surgery.

PAGE BREAK

The diagnosis of silent sinus syndrome is made when a patient has spontaneous enophthalmos or hypoglobus in the absence of any symptoms of sinusitis, related ophthalmic history or documented congenital deformity. Imaging shows contraction of the maxillary sinus. CT of the sinus is most useful in showing maxillary sinus shrinkage with focal bone loss. It may also show abnormal nasal anatomy.

Management includes consultation with ENT to perform an antrostomy with or without uncinectomy. This is currently the gold standard treatment. Concurrent or subsequent orbital floor repair is controversial. One study of 16 patients showed that only a small minority of patients (12.5%) needed orbital floor repair. Another case study concluded that antrostomy alone reduced enophthalmos 1 mm to 2 mm without any need for orbital floor repair. It is, therefore, advised to wait 6 months after surgery to observe for resolution of symptoms. After 6 months, if symptoms and orbital signs are still unresolved, then consider the need for further surgery with orbital floor repair.

Follow-up

Our patient returned to clinic 1.5 months after right maxillary antrostomy with complete resolution of his diplopia. Repeat exophthalmometry measured 18 mm bilaterally. Lid position had improved with an MRD1 of 5 on the right and 4.5 on the left. Palpebral fissures were equal at 11 mm. There was no lagophthalmos, lid lag or lid retraction noted. Ocular alignment had returned to orthophoria in all positions. The prism glasses were discontinued. He did not require any subsequent orbital floor repair after antrostomy.