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To the best of our knowledge, isolated bilateral oculomotor nuclear palsy has not yet been reported in the literature, while bilateral oculomotor nuclear palsy with more widespread rostral brainstem infarction has often been reported. We present a patient having 'top of the basilar syndrome' with midbrain infarction selectively involving the bilateral oculomotor nucleus. A 61-year-old woman with two episodes of vertebrobasilar infarction presented with sudden onset of bilateral ptosis. Examination revealed pronounced bilateral ptosis. In the primary position, fixation of either eye produced an approximately 50 prism diopter exotropia. Adduction of the right eye was restricted to the midline. There was moderately decreased adduction of the left eye, severe limitation of depression, and moderately decreased elevation of both eyes. Abduction of both eyes was normal. The pupils were equal, round, and reactive to light. Bilateral ptosis is suggestive of oculomotor nuclear palsy. On the basis of clinical findings alone, we could not establish whether the precise location of the lesion was all the subdivisions of the oculomotor nucleus except the Edinger-Westphal nucleus or the central caudal nucleus and bilateral fascicles. However, because axial MRI showed a small midbrain infarct in the oculomotor nucleus region, we concluded that she had an isolated, pupil-sparing, bilateral oculomotor nuclear palsy caused by midbrain infarct.
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PMID:A case of bilateral oculomotor nuclear palsy. 1288 11

A retrospective review was carried out of 204 patients with blepharophimosis, (blepharo) ptosis and epicanthus inversus syndrome (BPES). Of these, 94 (46%) had an autosomal dominant family history of BPES. Forty (20%) had manifest strabismus. Of these, 28 (70%) had esotropia, 10 (25%) had exotropia and 2 (5%) had hypertropia. Twelve (6%) patients had nystagmus. Seventy (34%) patients had a significant refractive error requiring spectacles. Twenty-one (30%) of these patients had anisometropic hypermetropia and 24 (34%) had anisometropic myopia. Forty-three patients had bilateral amblyopia and 40 had unilateral amblyopia, with 26 (65%) of these undergoing occlusion treatment. Of these, 14 had strabismus and refractive error, 7 refractive error only, 2 strabismus only and 3 neither refractive error nor strabismus. We conclude that there is a higher incidence of strabismus and refractive error in patients with BPES than in the normal population.
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PMID:The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). 1471 Apr 75

Fronto-ethmoidal mucocoele is rare and will cause visual impairment and blindness when management is belated. In order to improve the awareness of its ophthalmic manifestations and problems associated with its management we retrospectively analyzed clinical, radiological and histological features in five illustrative cases. They all presented with unilateral supra-orbital swellings and proptosis, antedated by head injury in two cases. Other ophthalmic manifestations included eye lid swelling, progressive visual loss, unilateral ptosis, exotropia and diplopia. Only two patients had nasal symptoms. In all cases, x-rays of the paranasal sinuses revealed radiolucent frontal sinuses with eroded anterior walls, floors and midline septa. Brain scan in one case demonstrated opacification and enlargement of the corresponding sinus. Fronto-ethmoidectomy in four cases confirmed erosion of sinus' walls and floors and in one case of the contiguous supra-orbital ridge in addition to colored fluid aspirates. In all cases, the curetted sinus lining comprised of chronic inflammatory tissue. Surgical intervention was followed by prompt postoperative resolution of ophthalmic manifestations. A high level of suspicion is essential for early diagnosis and treatment of fronto-ethmoidal mucocoeles and will assist in preventing irreversible visual loss.
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PMID:Ophthalmic manifestations of fronto-ethmoidal mucocoeles: a report of five cases. 1503 71

Rathke cleft cysts are commonly found on autopsy but are seldom symptomatic. Conventional treatment of these lesions consists of transsphenoidal drainage with partial excision of the cyst, and recurrence is rare. Alternatively, the instillation of absolute alcohol into the cyst has been described in several reports, with no complications. The authors report on a woman with Rathke cleft cyst that recurred three times after the initial treatment; the lesion was treated with alcohol cauterization on the final recurrence with devastating complications. This 51-year-old woman presented in 1992 with headaches and visual disturbances. Admission magnetic resonance imaging revealed a sellar/suprasellar lesion that was treated with conventional surgery and was subsequently confirmed to be a Rathke cleft cyst. The patient again presented with recurrence of the cyst at 22, 26, and 31 months after the initial presentation. On the final recurrence the cyst was treated with alcohol cauterization. Postoperatively, the patient awoke blind and suffered a seizure from leakage of the alcohol. The patient remains completely blind in both eyes and is also anosmic and has left lid ptosis and exotropia, which signify damage to the first through third cranial nerves. Rathke cleft cysts have been known to recur after primary surgery; however, this is the first report of a single cyst recurring three times despite conventional surgical treatment. Additionally, this is the first report in which devastating complications from alcohol cauterization of the cyst have been described. The authors therefore advocate caution when attempting alcohol cauterization and advise that meticulous care be taken to ensure the patency of the cyst.
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PMID:Devastating complications from alcohol cauterization of recurrent Rathke cleft cyst. Case report. 1520 Jan 27

Laser in situ keratomileusis (LASIK) is a common and popular procedure that is generally associated with excellent results and few complications. We present 3 cases of unusual LASIK-related complications. In the first case, the patient developed anisocoria after otherwise unremarkable surgery. In the second case, the patient developed mild eyelid ptosis. In the third case, the patient's exotropia resolved after mild refractive overcorrection. In each case, the visual outcome was excellent and no further intervention was necessary.
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PMID:Unexpected outcomes associated with laser in situ keratomileusis: ptosis, anisocoria, and "curing" of exotropia. 1603 4

We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy. His younger sister had shortened middle phalanx of fifth digits. His middle sister had hypodontia, shortened distal phalanx of fifth digit, agenesis of salivary glands, mild hearing loss and exotropia. His older sister had left nasolacrimal duct obstruction and aplasia of both parotid glands. The oldest sister had hypodontia and divergent excess exotropia. His mother had hypodontia. These findings are consistent with LADD syndrome. An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated. Renal and uro-genital anomalies have been noted variably.
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PMID:Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. 1646 Aug 12

Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A. To define the clinical and neuroimaging features of patients with this autosomal recessive syndrome, we studied 15 patients with genetically defined CFEOM2. All patients underwent full neurological, neuro-ophthalmological and orthoptic assessments. Twelve patients had pupillary pharmacological testing and nine had 3.0 tesla MRI of the brain, brainstem and orbits. Patients were born with severe bilateral ptosis and exotropia with almost complete bilateral absence of adduction, elevation, depression and intorsion. Variable abduction was present prior to strabismus surgery in 14 patients, and central ocular motility reflexes (smooth pursuit, saccades, vestibulo-ocular reflex and optokinetic reflex) were intact except for convergence. Pupillary light and near reflexes were not present, but irises were anatomically normal and responded to pupillary pharmacology. Neuroimaging of brain and brainstem was remarkable for the anatomical absence of cranial nerve (CN) 3 and probably CN 4 bilaterally. Therefore, the CFEOM2 phenotype and neuroimaging are both consistent with the congenital absence of CNs 3 and 4. Additional features included presence of most central ocular motility reflexes, a central lack of pupillary responsiveness of uncertain aetiology and modest phenotypic variability that does not correlate with specific PHOX2A mutations. Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes.
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PMID:Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. 1681 72

Botulinum toxin has been used extensively in strabismus management. However, less is published regarding its use in small-angled manifest deviations or decompensating heterophorias, where an alternative to surgery is required. The aim of this review is to look at the use and effectiveness of botulinum toxin in managing small-angled manifest deviations, both constant and intermittent, and decompensating heterophorias. These types of strabismus can prove difficult to manage, as the angle present is often too small for surgery to be advised, but it may still cause a cosmetic or symptom-producing problem. A search of the English speaking literature was undertaken using Medline facilities as well as a limited manual search of non-Medline journals and transactions. A brief overview is provided for mechanisms of action, complications and dose effects, and diagnostic and therapeutic uses of botulinum toxin. The main reported complications are those of ptosis, induced vertical deviation and subconjunctival haemorrhage. The higher the dose, the greater the risk of complications. In small-angle strabismus, botulinum toxin is reported as particularly useful in cases of acquired and acute-onset esotropia in aiding maintenance of binocular vision. It is useful for additional management of surgically under- or over-corrected esotropia, particularly for those with potential for binocular vision. Less effect is reported in primary exotropia versus primary esotropia. It is the management of choice for consecutive exotropia, particularly when patients have had previous multiple surgery and where there is a risk for postoperative diplopia. Botulinum toxin has a specific role in decompensated heterophoria, allowing the visual axes a chance to 'lock on' and subsequently maintain binocular vision. Successful outcomes are reported after 1-2 injections only but the results are best in cases of heterophoria with little near-distance angle disparity.
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PMID:Use of botulinum toxin in small-angle heterotropia and decompensating heterophoria: a review of the literature. 1776 54

To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Australia. Nystagmus or roving eye movements were the most common ophthalmologic manifestations as a presenting symptom of disease (13/20) and were the sole manifestation at presentation in 10/13 patients. Divergent strabismus was a presenting symptom in 5/20 patients and was the sole manifestation at presentation in 3/20 patients. Abnormal eye movements were noted in 6 patients and strabismus was noted in 4 patients with Leigh's or Leigh-like disease; in 9 of these 10 patients, Leigh's disease was the result of complex I deficiency. Altogether, ophthalmologic manifestations were noted at presentation in 12/35 patients with complex I deficiency. External ophthalmoplegia in conjunction with ptosis was the presenting symptom in 3/20 patients, all with Kearns-Sayers syndrome. Patients suspected of having oxidative phosphorylation disorders should be referred for ophthalmologic examination. Prospective studies are needed for a comprehensive elucidation of the ophthalmologic findings in these disorders.
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PMID:Ophthalmologic presentation of oxidative phosphorylation diseases of childhood. 1848 20

Certain forms of congenital incomitant strabismus are associated with abnormal cranial nerve development and resultant abnormal orbital innervation (eg, Duane retraction syndrome, congenital fibrosis of the extraocular muscles [CFEOM]); such conditions can be considered congenital cranial dysinnervation disorders (CCDDs). In addition to duction limitation and/or ptosis, orbital CCDD phenotypes include inappropriate extraocular muscle and/or levator innervation by nerves intended for innervation of other structures (eg, some of the innervation intended for the medial rectus muscle inappropriately innervating the ipsilateral lateral rectus muscle in Duane retraction syndrome). This report documents a unique orbital dysinnervational pattern-supraduction during attempted adduction and infraduction during attempted abduction in the left affected eye of a girl with exotropia and enophthalmos.
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PMID:A novel form of aberrant innervation in congenital cranial dysinnervation disorder. 1893 Jun 69


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