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Congenital cranial dysinnervation disorders are developmental abnormalities of cranial nerves that often include abnormal synkinesis. Among the most common ophthalmic congenital cranial dysinnervation disorders are Duane retraction syndrome and the Marcus-Gunn jaw-winking phenomenon. This report documents gustatory lid retraction as an unusual congenital cranial dysinnervation., (Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. All rights reserved.)

"Mirror movements" are an axonal guidance disorder that consists of involuntary contralateral movements that mimic unilateral intentional ones, typically involving the fingers of the hand. They can be isolated or associated with conditions such as Klippel-Feil syndrome, Kallmann syndrome, or congenital hemiplegia. Isolated congenital mirror movements are sometimes caused by autosomal dominant mutation in the genes DCC or RAD51. At least 4 previously reported cases had strabismus, 3 with Moebius syndrome and 1 with Duane retraction syndrome. We report the case of a boy with an unusual incomitant strabismus consistent with orbital dysinnervation and suggest that for some patients with congenital mirror movements the neurological miswiring extends to the orbit, causing congenital cranial dysinnervation disorder., (Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Bilateral inferior rectus muscle aplasia in the absence of craniofacial abnormality is a rare but possibly under-recognized form of strabismus. Unilateral hypertropia in primary position seems to be a recurrent feature of this condition. We report a case of a 20-year-old woman with left hypertropia in primary position who was found on computed tomography to have bilateral inferior rectus muscle aplasia. A unilateral inferior oblique anterior transposition resulted in correction of the vertical deviation in primary position., (Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

In unilateral congenital superior oblique palsy, a large hypertropia is sometimes associated with ipsilateral contracture of the superior rectus muscle and apparent overaction of the contralateral superior oblique. Ipsilateral double elevator weakening is one surgical approach; however, this procedure could compromise supraduction. We report a series of three consecutive patients who underwent ipsilateral superior rectus and inferior oblique recessions for unilateral superior oblique palsy. Intraoperatively, all three patients were found to have a lax ipsilateral superior oblique tendon. Postoperatively, all three patients had satisfactory correction of the hypertropia and abnormal head position with minimal supraduction defect. This procedure seems to be an acceptable initial surgical option for treating congenital superior oblique muscle palsy with ipsilateral contracture of the superior rectus muscle, even when the ipsilateral superior oblique tendon is lax., (Copyright © 2012 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Objective: Optic nerve head abnormalities have been reported in some patients with congenital fibrosis of the extraocular muscles (CFEOM). This study prospectively assesses optic nerve head appearance in a consecutive CFEOM cohort., Methods: All patients with CFEOM referred between 2006 and 2010 and who were mature enough to cooperate with fundus photography were included. Fundus photographs were reviewed with attention to optic nerve head features (eg, cupping >0.6, asymmetric cupping >0.3, optic nerve hypoplasia). Interested participants had CFEOM candidate gene analysis (KIF21A, TUBB3, PHOX2A) for genetic counseling purposes., Results: Ten CFEOM patients (five CFEOM1, five CFEOM3, age range 5-23 years) from eight families (all consanguineous but one) participated. All 10 patients had notable disc excavation (5) or optic nerve hypoplasia (5). CFEOM candidate gene analysis was performed in all patients and revealed a heterozygous p.R954W KIF21A mutation only in the patient who was not from a consanguineous family., Conclusions: Our observations suggest the optic nerve head can be affected by the orbital dysinnervation that occurs in CFEOM. Because careful clinical optic nerve head assessment is difficult in young patients with CFEOM and associated large angle incomitant strabismus, optic nerve head abnormalities may be under-diagnosed. The absence of mutations in known CFEOM genes in our cohort of consanguineous families suggests further genetic heterogeneity of this group of conditions.

Purpose: Congenital fibrosis of the extraocular muscles type I (CFEOM1), the most common CFEOM worldwide, is characterized by bilateral ptotic hypotropia, an inability to supraduct above the horizontal midline, horizontal strabismus (typically exotropia), and ophthalmoplegia with abnormal synkinesis. This distinct non-syndromic phenotype is considered autosomal dominant and is virtually always from heterozygous missense mutations in kinesin family member 21A (KIF21A). However, there are occasional KIF21A-negative cases, opening the possibility for a recessive cause. The objective of this study is to explore this possibility by assessing CFEOM1 patients exclusively from consanguineous families, who are the most likely to have recessive cause for their phenotype if a recessive cause exists., Methods: Ophthalmic examination and candidate gene direct sequencing (KIF21A, paired-like homeobox 2A [PHOX2A], tubulin beta-3 [TUBB3]) of CFEOM1 patients from consanguineous families referred for counseling from 2005 to 2010., Results: All 5 probands had classic CFEOM1 as defined above. Three had siblings with CFEOM. None of the probands had mutations in KIF21A, PHOX2A, or TUBB3., Conclusions: The lack of KIF21A mutations in CFEOM1 patients exclusively from consanguineous families, most of whom had siblings with CFEOM, is strong evidence for a recessive form of CFEOM1. Further studies of such families will hopefully uncover the specific locus(loci).

Objective: To document the genotype for familial congenital fibrosis of the extraocular muscles (CFEOM) with apparent autosomal recessive inheritance., Design: Interventional family study., Participants: Two affected siblings, 3 asymptomatic siblings, and their 2 asymptomatic parents., Methods: Ophthalmologic examination and candidate gene analysis (KIF21A and PHOX2A from venous blood samples) of the 2 affected siblings and their parents; confirmatory testing for 3 available asymptomatic siblings., Main Outcome Measures: Significant clinical observations and results of gene testing., Results: The 2 affected siblings had large-angle exotropia, moderate bilateral hypotropia, moderate bilateral ptosis, sluggish pupils, and almost complete ophthalmoloplegia with some abnormal synkinesis. The asymptomatic parents were not related and had unremarkable ophthalmic examinations. Four other siblings were normal by history; 3 underwent venous blood sampling for confirmatory testing. Candidate gene testing of PHOX2A, the gene for recessive CFEOM (CFEOM2), did not reveal mutation in the 2 patients or their parents. Sequencing of KIF21A, the gene for dominant CFEOM (CFEOM1), revealed heterozygous p.R954L in both affected individuals but in not in their parents or 3 asymptomatic siblings, consistent with parental germline mosaicism. Haplotype analysis suggested paternal inheritance but was not conclusive., Conclusions: Parental germline mosaicism can mimic recessive inheritance in CFEOM and likely is underrecognized. Ophthalmologists should be aware of this phenomenon when counseling parents of children with apparent recessive (or de novo) hereditary eye disease. Unlike other reported KIF21A mutations that cause CFEOM1, the p.R954L variant seems to be associated with abnormal pupils., Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article., (Copyright 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: To summarize the clinical, neuroradiologic, and genetic observations in a group of patients with unilateral synergistic divergence (SD)., Methods: Five unrelated patients with unilateral SD underwent ophthalmic and orthoptic examinations; three of them also had magnetic resonance imaging of the brain and orbits. Three patients underwent genetic evaluation of genes known to affect ocular motility: KIF21A, PHOX2A, HOXA1, and ROBO3., Results: The patients did not meet the clinical criteria for CFEOM types 1, 2, or 3. Each patient had severe adduction weakness on the affected side and large-angle exotropia in primary gaze that increased on attempted contralateral gaze because of anomalous abduction. Magnetic resonance imaging revealed a much smaller medial rectus muscle in the involved SD orbit. Oculomotor cranial nerves were present in the one patient imaged appropriately. Genetic sequencing in three patients revealed no mutations in KIF21A, PHOX2A, HOXA1, or ROBO3., Conclusions: SD should be classified as a distinct congenital ocular motility pattern within congenital cranial dysinnervation disorders. It may be caused by denervation of the medial rectus with dysinnervation of the ipsilateral lateral rectus by the oculomotor nerve precipitated by genetic abnormalities (some currently identified) or by local environmental, teratogenic, or epigenetic disturbances.

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.

Purpose: To assess for KIF21A mutation in the first two reported Saudi Arabian families with the classic phenotype of congenital fibrosis of the extraocular muscles type I (CFEOM1)., Methods: Clinical examination and genetic testing by amplification refractory mutation system (ARMS) assay for KIF21A R954W, the most common KIF21A mutation worldwide., Results: Clinical examination was consistent with classic CFEOM1 in both Family A and Family B. All participating patients (one child from Family A and four adults from Family B) were heterozygous for KIF21A R954W mutation., Conclusions: CFEOM1 is rare is Saudi Arabia as it is in the rest of the world. The finding of R954W mutation in the historically isolated population of the Arabian Peninsula confirms that R954 is a "hotspot" for KIF21A mutation.

Purpose: To report the phenomenon of newly-noted binocular diplopia following vision improvement in patients with sensory strabismus secondary to keratoconus, and to document the effect of strabismus surgery on this diplopia., Methods: Retrospective institutional case series [1982--2005] of records coded with keratoconus and strabismus. Keratoconus patients with visual acuity that could not be improved, childhood strabismus, known reason for acquired strabismus (other than decreased vision from kerataconus), decreased vision from other ocular disease, monocular diplopia, failure of strabismus surgery, and/or less than six months follow-up after strabismus surgery were excluded., Results: Although 103 medical records were identified, only seven met the strict inclusion criteria. All seven patients presented with gradual reduction in vision (not due to their strabismus), and none initially complained of diplopia. After intervention to improve visual acuity, six complained of constant binocular diplopia. This diplopia resolved after successful strabismus surgery. Postoperative Worth four-dot testing demonstrated suppression., Conclusions: Binocular diplopia, noted after intervention to improve visual acuity in our patients with strabismus secondary to long-standing uncorrected keratoconus, resolved after successful surgical alignment. Our patients may have developed suppression from uncorrected keratoconus before their sensory strabismus occurred.

Introduction: Monocular elevation deficiency with a tight ipsilateral inferior rectus muscle and fixation preference for the contralateral eye is a well recognized entity in strabismus. Most descriptions of the condition, however, do not document oblique muscle forced duction testing in the contralateral eye. The purpose of this report is to raise awareness that monocular elevation deficiency can be associated with, and may be secondary to, a floppy (lax) superior oblique muscle tendon in the contralateral fixating eye., Methods: Retrospective case series., Results: All 4 patients were previously diagnosed with congenital monocular elevation deficiency. All had variable head tilt towards the hypotopic eye, pseudoptosis with mild elevation limitation in that eye, and bilateral fundus excyclotorsion. In addition to inferior rectus muscle restriction in the hypotropic eye, forced duction testing was significant for contralateral superior oblique muscle tendon laxity., Conclusions: Fixation preference for the eye with lax superior oblique muscle tendon may have led to a tight inferior rectus muscle in the non preferred eye. However, a congenital association between tight inferior rectus muscle and a lax superior oblique muscle tendon in the other eye cannot be ruled out. Patients diagnosed with monocular elevation deficiency should have careful attention to forced duction testing of the contralateral superior oblique muscle tendon.

Duane retraction syndrome is a congenital incomitant strabismus caused by dysinnervation of the medial and lateral rectus muscles. Patients with unilateral Duane syndrome (80-90% of cases) who exhibit a fixation preference tend to prefer the unaffected eye. We describe 8 patients with unilateral Duane syndrome who prefer the affected eye. The most frequent associated ophthalmic finding was decreased vision in the unaffected eye from anisometropia and/or amblyopia. An additional associated finding was decompensated intermittent exotropia in 2 patients.

Purpose: To evaluate the effectiveness of a proposed new protocol for the primary treatment for very large angle esotropia: two muscle horizontal rectus muscle surgery with simultaneous botulinum toxin A injection in a small pilot study., Methods: Eight patients who had esotropia at near (ET') greater than 60 prism diopters (in actuality 70 to 100 prism diopters ET') underwent 2 muscle horizontal rectus surgery with simultaneous botulinum toxin A injection of the medial rectus intraoperatively. This was the only surgical procedure for all patients included in this report. Seven patients underwent bilateral medial rectus recession and bilateral injection, and one patient underwent a unilateral medial rectus recession / lateral rectus resection procedure with unilateral medial rectus injection., Results: Postoperatively, 6 of the 8 patients demonstrated residual esotropia at near of less than 10 prism diopters and were considered "successful" by the conventional criteria of binocular alignment within 8 prism diopters of orthotropia. Two undercorrections occurred in patients with 100 and 85 prism diopters of preop ET' respectively. But 3 other patients with such large deviations had satisfactory results. All patients and families were satisfied with postoperative binocular alignment, so no further surgery was undertaken. The patient who underwent unilateral surgery had the least surgical effect and was the largest undercorrection, probably because only one medial rectus received a Botox injection. Considering only the bilateral cases, results were "successful" in 6 of 7 cases. Most patients suffered an extended period of Botox induced exotropia in the postop' period before recovery from the paresis. One patient had a transient, successfully treated, postoperative strabismic amblyopia while exotropic., Conclusions: Bilateral medial rectus recession with simultaneous botulinum injection is a safe and effective primary surgical procedure for very large angle esotropia. A more extensive study is indicated to confirm these findings.

Purpose: To report and discuss the clinical findings of a 17-member family with 2 siblings who exhibit ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction., Subjects and Methods: Sixteen members of the 17-member immediate family underwent ophthalmic examination., Results: Two siblings exhibited ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction. One was bilaterally affected and the other had unilateral findings. A third sibling had isolated bilateral congenital ptosis. A fourth demonstrated classic Duane syndrome Type I in the right eye. Other family members did not have ophthalmic abnormalities., Conclusions: A unifying mechanism of congenital cranial dysinnervation may underlie these and similar phenotypes of oculomotor and/or abducens nerve abnormalities with or without abnormal synkinesis.

Purpose: To report the effectiveness of large-segment superior oblique tendon expanders for severe congenital Brown syndrome., Methods: Medical records of 12 consecutive patients with severe congenital Brown syndrome were evaluated retrospectively. All patients had a hypotropia > 20 prism diopters in primary position. A superior oblique tendon lengthening procedure, using a 10- to 12-mm-long silicone band, was performed on each patient. Preoperative and postoperative extraocular motility patterns were analyzed, and the final results were graded as "excellent," "good," "fair," "poor, undercorrected" and "poor, overcorrected.", Results: As of the last recorded follow-up examination (mean, 32 months), three patients had an excellent result, six had a good result, three had a fair result, and none had a poor result. All patients experienced an improvement in their severe Brown syndrome, with 100% showing a postoperative primary-position hypotropia < 8 prism diopters. Postoperative limitation of elevation in adduction was either -1 or -2 for all patients. No patient required further surgery, and no extrusions of the implants were noted., Conclusion: The superior oblique tendon expander procedure appears to be an effective tool in the surgical treatment of severe Brown syndrome. The use of a large-segment (10- to 12-mm) band seems to be an appropriate choice when dealing with patients having primary-position hypotropia > 20 prism diopters.