Endonasal Management of Optic Canal Stenosis Due to Fibrous Dysplasia

ObjectiveTo evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO).Methods and analysis27 Chinese TCIRG1-related osteoporosis infants were enrolled using direct DNA sequencing of PCR-amplified exons. 12 cases had frameshift mutation (the frameshift mutation group, group F), and 15 cases had point mutation (the point mutation group, group P). The clinical features of the two groups were compared, including age at onset, gaze qualities, optic atrophy, optic canal stenosis and waveforms of Flash visual-evoked potential (FVEP).ResultsThe clinical signs, except age at onset and FVEP, showed statistically significant differences between the two groups. The mean age at onset was 1.8 months in group F and 4.3 months in group P; 22 eyes (92%) with frameshift mutation and 16 (53%) with point mutation had poor gaze qualities, such as nystagmus and/or strabismus; optic atrophy was found in 16 eyes (67%) in group F and 6 (20%) in group P; the average optic canal diameter was 1.45 mm in the frameshift mutation cases, 1.87 mm in other cases; FVEP indicated that the waveforms in 10 eyes (42%) were not elicited in group F, yet five eyes (17%) in group P.ConclusionIn Chinese TCIRG1-related patients of IMO, the optic canal stenosis and optic atrophy were more serious in cases with frameshift mutations. However, no differences in the conduction block of optic nerve were found between the two groups.

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Cranioorbital fibrous dysplasia: with emphasis on visual impairment and current surgical management

Neurosurgical FOCUS ◽

10.3171/foc.2001.10.5.7 ◽

2001 ◽

Vol 10 (5) ◽

pp. 1-8 ◽

Cited By ~ 8

Author(s):

Aaron S. Dumont ◽

Paul T. Boulos ◽

John A. Jane ◽

Dilantha B. Ellegala ◽

Steven A. Newman ◽

...

Keyword(s):

Visual Impairment ◽

Fibrous Dysplasia ◽

Management Strategies ◽

Fibrous Tissue ◽

Optic Canal ◽

Cystic Degeneration ◽

Anterior Clinoid Process ◽

Canal Stenosis ◽

Common Causes ◽

Individualized Management

Fibrous dysplasia is a benign but slowly progressive disorder of bone in which normal cancellous bone is replaced by immature woven bone and fibrous tissue. Significant deformity and both acute and chronic visual impairment can result. A contemporary understanding of fibrous dysplasia, emphasizing the origins of visual impairment, indications for decompressive surgery, and the techniques for correction of the cosmetic deformity are presented. In their experience and review of the literature, the authors found the most frequent clinical presentations to be exophthalmos, displacement of the globe, abnormalities of extraocular motility, cosmetic deformity, and visual impairment. Although traditionally the cause of visual impairment has been ascribed to impingement of the optic canal on the optic nerve, the authors' experience is that the most common cause of visual loss is cystic degeneration of the tumor, particularly with those involving the anterior clinoid process. Exophthalmos and optic canal stenosis are less common causes of visual impairment. Indications for surgical intervention include acute and/or serially radiographically documented and relentless visual impairment and significant cosmetic deformity. Individualized management strategies are also discussed.

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Pneumosinus dilatans of the spheno-ethmoidal complex associated with hypovitaminosis D causing bilateral optic canal stenosis

Child s Nervous System ◽

10.1007/s00381-017-3373-6 ◽

2017 ◽

Vol 33 (6) ◽

pp. 1005-1008 ◽

Cited By ~ 2

Author(s):

Saritha Aryan ◽

Sumit Thakar ◽

Aniruddha T. Jagannatha ◽

Chandrakiran Channegowda ◽

Arun S. Rao ◽

...

Keyword(s):

Hypovitaminosis D ◽

Optic Canal ◽

Pneumosinus Dilatans ◽

Canal Stenosis ◽

Optic Canal Stenosis

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Reversal of optic canal stenosis in osteopetrosis after bone marrow transplant

American Journal of Ophthalmology ◽

10.1016/s0002-9394(00)00543-2 ◽

2000 ◽

Vol 130 (3) ◽

pp. 370-372 ◽

Cited By ~ 19

Author(s):

Natalie C Kerr ◽

Winfred C Wang ◽

Yasaman Mohadjer ◽

Barrett G Haik ◽

Sue C Kaste ◽

...

Keyword(s):

Bone Marrow ◽

Bone Marrow Transplant ◽

Marrow Transplant ◽

Optic Canal ◽

Canal Stenosis ◽

Optic Canal Stenosis

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Visual Function Improvement After Optic Nerve Sheath Fenestration in Osteopetrosis Patients with Optic Canal Stenosis: A Report of Two Cases

Neuro-Ophthalmology ◽

10.1080/01658107.2017.1367011 ◽

2017 ◽

Vol 42 (3) ◽

pp. 164-168 ◽

Cited By ~ 2

Author(s):

Daniah Alshowaeir ◽

Abdulrazag Ajlan ◽

Sajjad Hussain ◽

Adel Alsuhaibani

Keyword(s):

Optic Nerve ◽

Visual Function ◽

Optic Nerve Sheath ◽

Optic Canal ◽

Optic Nerve Sheath Fenestration ◽

Canal Stenosis ◽

Nerve Sheath ◽

Optic Canal Stenosis

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Entrapment neuropathy of the optic nerve due to hyperostosis associated with congenital anemia

Journal of Neurosurgery ◽

10.3171/jns.2005.103.5.0917 ◽

2005 ◽

Vol 103 (5) ◽

pp. 917-919 ◽

Cited By ~ 4

Author(s):

Takeo Baba ◽

Yoshihiro Minamida ◽

Takeshi Mikami ◽

Izumi Koyanagi ◽

Kiyohiro Houkin

Keyword(s):

Bone Marrow ◽

Visual Acuity ◽

Optic Nerve ◽

Surgical Decompression ◽

Optic Canal ◽

Calvarial Bone ◽

Content Type ◽

Canal Stenosis ◽

Optic Canal Stenosis ◽

Fine Print

✓ The authors report on the case of a 14-year-old boy who presented with bilateral visual impairment due to optic canal stenosis caused by hyperplasia of the bone marrow arising from anemia. The patient had hereditary hemolytic anemia with unstable hemoglobin of the Christchurch type. This congenital form of anemia caused hyperplasia of the bone marrow as well as hyperostosis of the entire calvarial bone, which in turn led to optic canal stenosis. The patient underwent surgical decompression of the optic canal, resulting in significant improvement in visual acuity. Pathological findings in the calvarial bone indicated hypertrophic bone marrow with no other specific features such as neoplastic pattern or fibrous dysplasia. With the exception of objective hearing impairment, no other significant cranial neuropathy has been detected thus far. On reviewing the published literature, this case was found to be the first in which hyperostosis due to congenital anemia resulted in symptomatic entrapment neuropathy of the optic nerve. The authors concluded that surgical decompression effectively improves visual acuity.

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Unilateral blindness after ipsilateral prophylactic transcranial optic canal decompression for fibrous dysplasia

American Journal of Ophthalmology ◽

10.1016/s0002-9394(98)00118-4 ◽

1998 ◽

Vol 126 (3) ◽

pp. 469-471 ◽

Cited By ~ 38

Author(s):

Chaim Edelstein ◽

Robert A. Goldberg ◽

Gregory Rubino

Keyword(s):

Fibrous Dysplasia ◽

Optic Canal

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Normal Vision despite Narrowing of the Optic Canal in Fibrous Dysplasia

New England Journal of Medicine ◽

10.1056/nejmoa020742 ◽

2002 ◽

Vol 347 (21) ◽

pp. 1670-1676 ◽

Cited By ~ 115

Author(s):

Janice S. Lee ◽

Edmond FitzGibbon ◽

John A. Butman ◽

Craig R. Dufresne ◽

Harvey Kushner ◽

...

Keyword(s):

Fibrous Dysplasia ◽

Optic Canal ◽

Normal Vision

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Management of the Temporal Bone Fibrous Dysplasia With External Auditory Canal Stenosis and Secondary Cholesteatoma in an Asian Population: A 11-Case Series

Ear Nose & Throat Journal ◽

10.1177/0145561320927922 ◽

2020 ◽

pp. 014556132092792

Author(s):

Kun Zhang ◽

Peng Qu ◽

Bing Wang ◽

Endong Zhang ◽

Bing Chen

Keyword(s):

Hearing Loss ◽

Fibrous Dysplasia ◽

Temporal Bone ◽

External Auditory Canal ◽

Perioperative Complications ◽

Case Series ◽

Asian Population ◽

Canal Stenosis

Objective: This article summarizes the experience of diagnosis and treatment of temporal bone fibrous dysplasia (FD) with external auditory canal (EAC) stenosis and secondary cholesteatoma in the Chinese population, in order to improve the quality of life of patients in the future. Methods: Eleven patients with FD of the temporal bone who underwent surgery were retrospectively reviewed. Results: All lesions originated from the temporal bone, and all involved of the EAC. There were 11 cases of cholesteatoma in the EAC, 4 cases of cholesteatoma in the middle ear. The most common symptoms were hearing loss (100%), tinnitus (36.4%), and otorrhea (36.4%). Two patients were severe-profound sensorineural hearing loss, and one patient was complicated with subperiosteal abscesses. All 11 patients underwent surgery. There were no perioperative complications in this series and median follow-up time was 4.2 years. Conclusion: Temporal bone FD remains a rare diagnosis, especially in the Asian population. The lesions mainly lead to stenosis of the EAC, especially at the osteochondral junction. Cholesteatoma is the main complication of this disease, which is secondary to occlusion of the EAC with the growth of the lesion. Canaloplasty of EAC combined with wide meatoplasty can provide excellent prognosis in most cases.

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