Chin Elevation Research Articles

Elongation of the inferior rectus tendon with fascia lata graft for large vertical squint angles in patients with Graves’ orbitopathy

PurposeTo investigate the use of fascia lata (FL) grafts for inferior rectus muscle (IRM) tendon elongation in patients with large vertical squint angles with Graves’ orbitopathy (GO).MethodsIn this retrospective study, we included a consecutive series of 20 eyes of 13 patients with GO who underwent IRM tendon elongation with FL. Orthoptic and ophthalmologic examinations including measurement of the head posture, the extent of deviation in primary position (PP), elevation, motility, and binocular diplopia at the tangent of Harms were conducted preoperatively and after a mean postoperative time of 10.8 (5.0–35.0) months in all patients.ResultsThe mean total repositioning distance was 9.3 ± 3.6 (3.5–16.0) mm. Postoperatively, we found a significant increase in elevation (5.4 ± 2.4 vs. 2.7 ± 2.4 mm preoperatively, p = 0.011). A significant reduction in vertical squint angle (2.8 ± 3.7 vs. 20.2 ± 18.8 Δ preoperatively, p = 0.004), chin elevation (2.3 ± 3.7 vs. 12.9 ± 6.3° preoperatively, p < 0.001), extorsion in PP (0.1 ± 3.8 vs. 8.4 ± 7.8° preoperatively, p = 0.002), and in elevation (1.8 ± 4.8 vs. 11.1 ± 10.9° preoperatively, p = 0.004) occurred postoperatively. A mean dose–effect relation of 2.6 ± 2.9 Δ/mm was calculated. Postoperatively, the lower eyelid retraction was significantly increased (1.5 ± 1.4 vs. 0.4 ± 0.5 mm preoperatively, p = 0.005).ConclusionIRM tendon elongation with FL is a feasible and effective procedure without relevant risk for surgery-related complications.

Surgical Management of Complex Anomalous Head Posture in Idiopathic Infantile Nystagmus

Idiopathic infantile nystagmus (IIN) is usually associated with a null zone, which is the zone of minimal nystagmus intensity. An anomalous head posture (AHP) is adopted to shift the null zone from an eccentric position to primary position. A complex AHP may include head position involvement in different ocular axes-namely face turn, chin elevation or depression and head tilt or a combination of these. Surgically, various procedures have been described for correction of this condition. We evaluated 2 children aged six and ten years, who presented with shaking of eyes along with presence of a complex AHP. First child had 20 degrees right face turn, 20 degrees right head tilt and 10 degrees of chin elevation. She underwent a combination of 2 procedures-augmented Anderson’s procedure for correction of right face turn and modification of Kestenbaum procedure for right head tilt along with bilateral IR recession, for correction of chin elevation. Postoperatively, AHP was satisfactorily corrected to 5 degrees face turn and minimal head tilt, and it remained stable for one year. The second child had left face turn 15 degrees, with right head tilt of 20 degrees and chin depression 10 degrees. He underwent a combination of 2 procedures-augmented Anderson’s procedure for correction of left face turn and modification of Kestenbaum procedure for right head tilt along with bilateral SR recession, for correction of chin depression. Postoperatively, AHP was satisfactorily corrected to 5 degrees face turn and minimal head tilt, which remained stable over a period of one year. In both cases, AHP was corrected by operating on only 2 muscles in each eye (one horizontal and one vertical) at a time. As both cases presented with combination of both torsional and vertical components of AHP, we decided to treat them both by surgery on a single vertical rectus muscle bilaterally to correct the chin position (elevation or depression), as well as torticollis (transposition of vertical recti, either nasally or temporally as needed). Since a third rectus muscle was not operated upon, there was a lesser possibility of developing anterior segment ischaemia. Additionally, as all components of AHP were corrected in one session, need for a second procedure under general anaesthesia to correct residual AHP was avoided in both cases.

KIF21A variant R954W in Familial or Sporadic Cases of CFEOM1

To demonstrate the clinical characteristics and determine mutations in the KIF21A gene, encoding a kinesin motor protein in patients with congenital fibrosis of the extraocular muscles (CFEOM) type 1. Patients of five families with congenital fibrosis syndrome and two simplex patients with CFEOM underwent ophthalmologic examination and mutation analysis in the KIF21A gene. Clinical examination and passive motility testing prior to surgery met criteria for CFEOM. All patients had congenital restrictive ophthalmoplegia primarily affecting muscles innervated by the oculomotor nerve. Complete mutation screening in the KIF21A gene revealed the presence of the known and most common recurrent variant R954W in three families and in two simplex cases. Two families demonstrated linkage to chromosome 16. The patients included in the study had marked restriction of movement bilaterally with nearly complete loss of vertical ocular motility, graded reduction of horizontal motility, ptosis, and compensatory chin elevation. The phenotype was variable in patients carrying the same mutation. In one family, all patients were diagnosed with mental retardation, indicating that this syndrome might not only affect the development of cranial nerves, but can also be responsible for general neurologic dysfunction. The screening data suggest frequent and exclusive appearance of the R454W variant in sporadic and familial cases of CFEOM1 in Germany.

A Case of General Congenital Fibrosis Syndrome With A-pattern Strabismus

Purpose: To report a case of general congenital fibrosis syndrome with A-pattern strabismus, bilateral ptosis and hypotropia. Case summary: A six-year-old girl was presented with severe bilateral ptosis and esodeviation of the left eye since birth. No levator action was presented and her chin was elevated at an angle of 25 degrees. In both eyes, an abduction defect was observed, and no vertical movement was presented. There was a left esotropia of 20 prism diopters (PD) and bilateral hypotropia of 35PD. There was an A-pattern strabismus that presents convergence movements during attempts to look upward, and orthotropia during attempts to look downward. Diagnosed as general congenital fibrosis syndrome with A-pattern esotropia, bilateral ptosis and hypotropia, bilateral inferior rectus muscle recessions were performed. After the operation, chin elevation and hypotropia in both eyes were corrected and exodeviation increased. Thus, orthotropia was observed in the primary position, and an A-pattern strabismus occurred with an exotropia of 15PD on the downgaze. Conclusions: A congenital fibrosis syndrome with an A-pattern strabismus was reported for the first time by the authors. On decisions concerningsurgical amounts of horizontal deviation, exodeviation should be considered to increase after bilateral inferior rectus muscle recessions.

A family of congenital fibrosis of extraocular muscles associated with juvenile canities

To analyze the clinical manifestations of affected individuals in a family of congenital fibrosis of the extraocular muscles (CFEOM) with juvenile canities. All affected and unaffected individuals were retrospectively analyzed in this study. The clinical features include genetic aspects, sex, age, ptosis, restriction of eye movement, aberrant innervation and surgical procedures, were evaluated. This pedigree was inherited as autosomal dominant. There were 14 cases suffering from congenital fibrosis of extraocular muscles in four generations. They had congenital blepharoptosis, head-tilt, chin lift and primary gaze fixed in a hypotrophic position. But vertical and horizontal positions of the eye and restriction of eye movement were different among affected individuals. Some of them also had pupillary abnormally, aberrant innervation and juvenile canities. Inferior rectus recession improved hypotropia in patients with infraducted eyes and chin elevation. Horizontal muscle recession corrected horizontal strabismus satisfactorily in most cases. Ptosis was repaired by frontalis sling or levator resection. This is the first report of CFEOM associated with juvenile canities. There was phenotypic heterogeneity in this CFEOM pedigree. So the phenotype alone is not sufficient to distinguish among the 3 genotypically distinct CFEOM syndromes. The combination of clinical characteristics and genetic analysis are the basis for the establishment of diagnosis.

Ocular torticolis in Down syndrome

ObjectiveTo determine the prevalence of torticollis in Down syndrome (DS) patients. Methods760 patients with DS underwent a complete eye examination that included visual acuity, ocular motility, refraction and head posture. ResultsSome form of torticollis was present in 75 patients (9.86%). In 80% it was accompanied by chin elevation or head tilt over one or the other shoulder. In 28 patients (37.33%) torticollis was concomitant with nystagmus and 11 cases (14.66%) presented fourth nerve palsy. In 23 patients (30.66%) no eye condition could be found to explain the abnormal head posture. ConclusionsTorticollis is more common in DS patients than in the general population. Fourth nerve palsy and nystagmus were the most common ocular causes in our group of patients. Some patients appeared to have no ocular causes for their head tilt. Torticollis is not part of the DS phenotype, so its aetiology must be sought.

Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles

Purpose To outline the clinical features and surgical treatment of patients with familial and sporadic (simplex) forms of congenital fibrosis of extraocular muscles (CFEOM) from 2 countries, and to classify them according to phenotype and mode of inheritance. Design Observational and experimental study. Methods Twenty-eight affected individuals from 20 families with familial or sporadic CFEOM underwent assessment of ocular motility, visual acuity, slit-lamp biomicroscopy, tonometry, and ophthalmoscopy. Seventeen patients had a variety of eye muscle procedures and ptosis repair. Results There were 1 Iranian family with autosomal dominant CFEOM, 4 Iranian families with autosomal recessive disease, and 15 simplex cases with various CFEOM phenotypes. Two simplex patients had unilateral disease. All other cases were bilateral. Inferior rectus recession improved hypotropia and Bell's phenomenon in the patients with infraducted eyes and chin elevation. Horizontal muscle recession, sometimes combined with opposite muscle resection, corrected horizontal strabismus satisfactorily in most cases. Ptosis was repaired by frontalis sling and/or levator resection. Conclusion Definite recessive CFEOM was present only in Iranian patients. American patients had the classic phenotype of dominant CFEOM, which was also observed in some of the Iranian patients. The surgical management of patients with CFEOM is challenging. Correction of vertical and horizontal strabismus was addressed using large muscle recessions. Ptosis repair should aim at placing the lid level 1 to 2 mm above the pupil in the primary position to avoid exposure keratopathy.

Elevation of one eye during tooth brushing

PURPOSE: To describe a patient with congenital fibrosis of the extraocular muscles (CFEOM) and elevation of one eye during tooth brushing. METHODS: A 9-month-old girl underwent full ophthalmologic examination. Exonic and flanking intronic sequences of the CFEOM2 ARIX gene were sequenced. RESULTS: The patient’s clinical findings were consistent with classic CFEOM including chin elevation, bilateral ptosis, infraducted globes, no voluntary ocular elevation beyond midline, and convergence on attempted upgaze. During tooth brushing her right eye elevated beyond midline. This was elicited only by touching her teeth or gums but not by mouth movements. No ARIX mutations were detected. CONCLUSION: This is the first case described with CFEOM and aberrant regeneration between the nerve to the superior rectus and the trigeminal nerve. This aberrant innervation supports a primary developmental abnormality of the cranial nerves in CFEOM.

Measurement of venous outflow pressure in the central retinal vein to evaluate intraorbital pressure in Graves' ophthalmopathy: a preliminary report

PURPOSE. To evaluate the intraorbital pressure in patients with Graves' ophthalmopathy (GO) in relation to the intraocular pressure (IOP) and proptosis and to find out whether optic nerve compression is predictable. METHODS. The venous outflow pressure (VOP) in the central retinal vein was measured by the perviously described technique of oculodynamometry.1 Since the central retinal vein passes through the orbit, the VOP cannot be lower than the intraorbital pressure if outflow is to be guaranteed. The IOP was measured either in primary position or with slight chin elevation to avoid restriction of the globe. Fifty-seven patients underwent a complete ophthalmologic examination, including VOP measurements, Hertel exophthalmometry and visual fields. RESULTS. The IOP in primary position ranged between 10 and 29 mmHg and in most (n=54) cases the VOP was 0-4 mmHg higher than the IOP. These patients had neither scotomas nor visual deterioration during an observation period of up to 2 years. In those cases (n=3) where the difference between IOP and VOP was 35 mmHg, the patients developed scotomas and visual deterioration and had to be treated (high-dose steroids or orbital decompression). The elevation in VOP did not correlate with the degree of proptosis. In one unilateral case, treatment of high IOP (32 mmHg) with dorzolamide drops led to a decrease in visual acuity of two lines, inferior field depression and relative afferent pupillary defect. The difference between IOP and VOP was 10 mmHg. Stopping treatment normalized visual function, the IOP rose to its original level and the difference between IOP and VOP was 4 mmHg. CONCLUSION. The increased IOP in GO is not caused by primary glaucoma but by elevated intraorbital pressure. The difference between IOP and VOP must be <5 mmHg to guarantee normal perfusion. We interpret these findings to suggest that loss of visual acuity and visual field defects may not only be caused by optic nerve compression at the apex but also by deterioration of optic nerve head perfusion.

Ungewöhnliche Kopfzwangshaltungen bei kongenitaler Parese des M. obliquus superior

With congenital superior oblique palsy, an abnormal head posture which is different from the usual one (head tilt) has hardly been described. We performed this study to point out the spectrum of atypical head posture and its operative treatment procedures. The charts of all 103 patients with congenital superior oblique palsy which were seen at our clinic between 1983 and 1993 were reviewed. 13 patients (13%) had an atypical head posture. Group 1: patients with a face turn to the non-involved side (n = 5). The vertical deviation increased abruptly starting from the primary position; is was comitant in adduction. Combined surgery of the obliques muscles was most often performed (n = 3). Group 2: patients with a vertical abnormal head posture. 3 Patients presented with a chin elevation. Their vertical deviation was incomitant, it was smallest in downgaze. An isolated recession of the inferior oblique muscle was performed in all cases. One patient had a chin depression; she also had an esotropia in downgaze. A recession of the inferior oblique muscle was performed. Group 3: patients with a face turn and a chin elevation (n = 4). Vertical deviation was maximal in adduction and was smallest in the lower and temporal field of gaze. We performed first a recession of the inferior oblique muscle and then-if necessary-a tuck of the superior oblique muscle or a recession of the contralateral inferior rectus muscle. An atypical head posture can occur in about 10% of cases. Its cause can be explained after checking the incomitance of the vertical deviation and the motility disorder. These parameters also determine the operative procedures.

Unilateral Congenital Ptosis

Patients with unilateral congenital ptosis often adopt chin elevation to maintain fusion. This compensatory head posturing has been considered a sign of fusion, thus indicating a low risk for amblyopia. To evaluate this sign, we reviewed the charts of 11 preverbal children with unilateral congenital ptosis who had straight eyes and appropriate compensatory head posturing to maintain binocular vision. Four additional patients with unilateral ptosis and no compensatory head posturing were tested for comparison. All patients had undergone an examination and had been tested by pattern Visual Evoked Potential (VEP) under chloral hydrate sedation. Five of the 11 patients with compensatory head posturing were found to be amblyopic, three moderately so and two severely affected. The four patients without compensatory head posturing were amblyopic. It is our hypothesis that compensatory head posturing allows peripheral fusion even when significant amblyopia is present. Additionally, the clinical sign of a compensatory head turn to maintain binocular vision does not rule out the presence of significant amblyopia.