Research progress on the molecular genetics and neuroscience of congenital cranial dysinnervation disorders / 国际眼科杂志(Guoji Yanke Zazhi)

Congenital cranial dysinnervation disorders(CCDDs)are a group of diseases with congenital non-progressive developmental abnormalities or absence of one or more cranial nerves, resulting in primary or secondary abnormalities of cranial nerves innervating the extraocular muscles. CCDDs can be sporadic or hereditary, and may be accompanied by systemic abnormalities. In recent years, with the research progress of neuropathology, neuroimaging, and genetics, it has not only been clarified that the cause of eye movement disorder in CCDDs is neurogenic, but also been found the pathogenic genes of CCDDs, including SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, and HOXB1, etc. In this review, the relevant domestic and international literatures on the molecular genetics and neuroscience of CCDDs in recent years are reviewed, aiming to address how the causing gene mutations of CCDDs affect brain neural development and further lead to congenital abnormal cranial nerve innervation, in order to provide references for the clinical and basic research of CCDDs.

Wildervanck syndrome: case report from a tertiary care centre

One suspected case of Wildervanck syndrome (OMIM 314600) reported from our tertiary care centre. Wildervanck syndrome is distinct from other similar conditions due to its opthal and hearing associations-forming a clinical triad. Candidate gene identification in Wildervanck syndrome is still pending whereas most other similar genetic conditions has got a specific gene mutation. Klippel Feil anomaly suspected one girl admitted in our centre with severe pneumonia showed features of short neck, fusion of cervical spines and Sprengel deformity. Detailed examination showed bilateral severe sensorineural hearing loss, Duane eye movement with other novel associations not described in literature. We clinically suspected Wildervanck syndrome and did molecular testing. Being clinicians, it is our responsibility to report new associations and clinical findings and thus broaden the phenotype. Since it is a highly infrequent disorder, discussed in detail here.

Quantitative grading evaluation of the therapeutic efficacy of asymmetric bilateral lateral rectus recession in type Ⅲ Duane retraction syndrome / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To quantitatively evaluate the therapeutic efficacy of the asymmetric recession of bilateral lateral rectus in patients with unilateral type III Duane retraction syndrome.METHOD:Retrospective analysis of clinical data. The clinical data of 12 cases of type III Duane retraction syndrome with unilateral lateral rectus recession were analyzed. All subjects had restricted internal rotation, with narrowing of the palpebral fissure and vertical deviation, and restricted external rotation with widening of the palpebral fissure. All patients had abnormal head positions. The degree of strabismus was measured while maintaining the head in a neutral position. Asymmetric recession of bilateral lateral rectus was selected based on the degree of strabismus of affected eye or 1～3mm longer, with a smaller recession and Y-splitting in the affected eye and a larger recession in the healthy eye.RESULT:The difference in the degree of strabismus in the healthy eyes before and after surgery was statistically significant(Z=-4.158, P<0.01), as was the difference in the degree of restricted internal rotation(Z=-2.640, P=0.008). The difference in the degree of restricted external rotation was not statistically significant(Z=-1.732, P=0.083). The difference in abnormal head position was statistically significant(Z=-4.181, P<0.01), while the difference in eyeball recession was not statistically significant(Z=-1.414, P=0.157). The difference in vertical deviation was statistically significant(Z=-3.115, P=0.002). A total of 10 patients(83%)had stereoscopic vision before surgery, and 11 patients(92%)had recovered stereoscopic vision after surgery, with a further improvement in stereoacuity in 50% of patients.CONCLUSION:Asymmetric recession of bilateral lateral rectus combined with Y-splitting of the affected lateral rectus can effectively improve the degree of strabismus, abnormal head position, vertical deviation and stereoacuity without aggravating the degree of restriction of external rotation or eyeball recession.

Does head tilt influence facial appearance more than head turn?

Purpose: To evaluate the frequency of facial asymmetry parameters in patients with head tilt versus those with head turn. Methods: This cross-sectional comparative study was performed on 155 cases, including 58 patients with congenital pure head turn due to Duane retraction syndrome (DRS), 33 patients with congenital pure head tilt due to upshoot in adduction or DRS, and 64 orthotropic subjects as the control group. The facial appearance was evaluated by computerized analysis of digital photographs of patients' faces. Relative facial size (the ratio of the distance between the external canthus and the corner of the lips of both face sides) and facial angle (the angular difference between a line that connects two external canthi and another line that connects the two corners of the lips) measured as quantitative facial parameters. Qualitative parameters were evaluated by the presence of one-sided face, cheek, and nostril compression; and columella deviation. Results: The facial asymmetry frequency in patients with head tilt, head turn, and orthotropic subjects was observed in 32 (97%), 50 (86.2%), and 22 (34.3%), respectively (P < 0.001). In patients with head tilt and head turn, the mean facial angle was 1.78º ± 1.01º and 1.19º ± 0.84º, respectively (P = 0.004) and the mean relative facial size was 1.027 ± 0.018 and 1.018 ± 0.014, respectively (P = 0.018). The frequencies of one-sided nostril compression, cheek compression, face compression, and columella deviation in patients with pure head tilt were found in 19 (58%), 21 (64%), 19 (58%), and 19 (58%) patients, respectively, and in patients with pure head turn the frequencies were observed in 42 (72%), 37 (63%), 27 (47%), and 43 (74%), respectively. All quantitative and qualitative facial asymmetry parameters and facial asymmetry frequencies were significantly higher in head tilt and head turn patients as compared to the control group (P < 0.001). Conclusion: All facial asymmetry parameters in patients with head tilt and head turn were significantly higher than orthotropic subjects. The quantitative parameters such as relative facial size and facial angle were significantly higher in patients with pure head tilt than pure head turn. The results revealed that pure head tilt was associated with a higher prevalence of facial asymmetry than pure head turn.

Aportes navales al inicio de la investigación en medicina tropical en el siglo XIX / Naval contributions at the beginning of the tropical medicine research in the 19th century

Resumen En la segunda mitad del siglo XIX, el inicio de la investigación en medicina tropical se vio favorecido con aportes de empresas navieras, como la Compañía Holandesa de las Indias Orientales, siendo quizás el más importante su gestión apoyando la creación en China del Servicio Marítimo Imperial de Aduanas (1854-1950), impuesto al débil gobierno chino por los cónsules de Inglaterra, Francia y EEUU, para establecer tasas regulares en todos sus puertos, que pronto amplió sus funciones a la información de mareas, tifones y clima, terminando por crear en 1863 un Servicio Médico para detectar epidemias y establecer cuarentenas. Este Servicio Médico editó una revista, Medical Reports, en la cual publicaron distinguidos investigadores, como Patrick Manson, Padre de la Medicina Tropical. Comentamos algunos informes aparecidos en ella, para conocer su real importancia en el desarrollo de la medicina tropical.

Abstract In the second half of the 19th century, the beginning of the research on tropical medicine was favored with contributions from shipping companies, like Dutch East India Company, being perhaps the most important of these its collaboration in the creation of the China Imperial Maritime Customs Service (1854-1950), imposed by consuls from England, France and USA, on the weak Chinese government in order to establish regular taxes in all its ports, soon expanding its functions with reports on tides, typhoons and weather, ending up creating a medical service in 1863 to detect epidemics and establish quarantines. This medical service published a Journal, the Imperial Maritime Customs Medical Reports, where they wrote distinguished investigators, such as Patrick Manson, Father of Tropical Medicine. We comment in some reports of this journal, to get an idea about its real importance in the development of tropical medicine.

Síndrome de pseudo-Duane secundario a Schwannoma de nervio abducens: Reporte de caso y revisión / Pseudo-Duane syndrome secondary to abducens nerve schwannoma: Case report and review

Reporte de caso de síndrome de pseudo-Duane asociado a schwannoma de nervio abducens y neurofibromatosis tipo 2 (NF2). Este síndrome es raro, caracterizado por limitación en abducción, retracción ocular, disminución de hendidura palpebral en abducción y restricción del recto medial ipsilateral en test de ducción forzada. La NF2 es también una enfermedad infrecuente caracterizada por tumores de sistema nervioso central y periférico. Los schwannomas de nervio abducens son también poco frecuentes, y se presentan comúnmente con diplopia. Se revisan brevemente estas enfermedades. Es el primer caso reportado de pseudo-Duane secundario a schwannoma de nervio abducens y NF2 según nuestro conocimiento.

A pseudo-Duane syndrome case associated with abducens nerve schwannoma and neurofibromatosis type 2 (NF2) is presented. This syndrome is a rare disease characterised by abduction limitation, ocular retraction, narrowing of the palpebral fissure in abduction, and ipsilateral medial rectus restriction on forced duction test. NF2 is also an uncommon disease which is characterised by peripheral and central nervous system tumours. Abducens nerve schwannomas are also uncommon and presents usually as diplopia. A short review of these diseases is given. This is the first case of pseudo-Duane secondary to abducens nerve schwannoma, to our knowledge.

Management of Duane retraction syndrome: A simplified approach

Duane retraction (or co-contraction) syndrome is a congenital restrictive strabismus which can occur either as an isolated entity or in conjunction with other congenital anomalies and is now listed as a congenital cranial dysinnervation disorder. It is characterized by co-contraction of horizontal recti on attempted adduction causing globe retraction along with variable amounts of upshoots or downshoots. It may have limited abduction or adduction or both and present as esotropic, exotropic, or orthotropic Duane. The diagnosis of this disease is usually clinical. However, recent research has provided a greater insight into the genetic basis of this disease paving a way for a greater role of genetics in the diagnosis and management. This disease can have a varied presentation and hence the treatment plan should be tailor-made for every patient. The indications for surgery are abnormal head posture, deviations in the primary position, retraction and narrowing of palpebral aperture and up- or downshoots during adduction, and sometimes also to improve abduction. The arrival of newer surgical techniques of periosteal fixation (PF) of lateral rectus (LR), partial vertical rectus transposition, or superior or inferior rectus transposition in addition to LR recession with Y-split has vastly improved the management outcomes, providing not only primary position orthophoria but also increased binocular visual fields as well.

Clinical features and surgical outcomes of Duane retraction syndrome in Turkish patients / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To analyze the clinical features and surgical outcomes of Duane retraction syndrome(DRS)patients.<p>METHODS: The clinical data of 94 DRS patients were evaluated. Complete ophthalmic data including age, sex, laterality, the type of DRS, angle of deviation, abnormal head posture(AHP), globe retraction, overshoots and the type of surgical approach were recorded.<p>RESULTS: The average age of patients was 15.4±9.18 years, and there were 78 males and 16 females. Unilateral and bilateral involvement were found in 87% and 13% of patients, respectively. In unilateral DRS patients, 65% left eyes predominance were observed. Of the 94 patients, 59.5% of the patients were type I, 29.7% of the patients were type II, 8.5% of the patients were type III and 2.1% of the patients were type IV. Most of the patients were 36(38%)esotropic and AHP over 10° was noted in 43(96%)patients, preoperatively. There were 40(43%)patients with overshoots which were more common in type II. Surgery was performed to 45(48%)patients.<p>CONCLUSION: An excellent surgical outcome was obtained in 32(78%)patients that underwent horizontal rectus surgery and AHP improved in 24(53%)patients. Y-splitting and posterior tenon fixation of lateral rectus both have satisfactory outcomes in the presence of significant overshoots. Foster augmentation with vertical rectus transposition achieved optimal results in abduction limitation.

Síndrome de Duane tipo II con upshoot marcado / Duane's syndrome type II with marked upshoot

El síndrome de Duane es una alteración de la motilidad ocular caracterizada por la retracción del globo ocular y el estrechamiento de la hendidura palpebral con la aducción, asociada a la restricción de la abducción, aducción o ambas. Han surgido muchas teorías sobre la etiología del síndrome de Duane, pero la mayoría de los autores coinciden en que es consecuencia de una alteración congénita del VI par craneal, con una inervación aberrante del recto lateral por el III par craneal. Esta es la causa más frecuente de inervación aberrante ocular congénita. Es más frecuente en el ojo izquierdo. El síndrome de Duane tipo I es el más frecuente, y es menos frecuente el tipo II. Presentamos dos pacientes masculinos de 11 y 37 años de edad respectivamente, con diagnóstico de síndrome de Duane tipo II, con exotropía de 15 grados por Hirchsberg en el ojo izquierdo y en el ojo derecho respectivamente; tortícolis mentón a la derecha, limitación de la aducción con estrechamiento de la hendiduda palpebral y marcado upshoot en relación con el ojo afecto. Se decide realizar reseción del recto lateral 8,0 mm del ojo afectado más Y split, para mejorar el marcado upshoot. Los pacientes después de la cirugía estaban en ortotropía sin upshoot, ni tortícolis(AU)

Duane's syndrome is an eye motility disorder characterized by globe retraction and palpebral fissure narrowing with adduction, associated to abduction restriction, adduction restriction or both. Many theories have been put forth about the etiology of Duane's syndrome, but most authors agree that it is the consequence of a congenital alteration of the sixth cranial pair with aberrant innervation of the lateral rectus by the third cranial pair. This is the most common cause of congenital aberrant ocular innervation, and is more frequent in the left eye. Duane's syndrome type I is the most common and type II is the least common. A presentation is provided of two male patients aged 11 and 37 years with a diagnosis of Duane's syndrome type II with 15 degree exotropia on Hirchsberg's scale in the left and right eye, respectively, chin torticollis to the right, adduction limitation with palpebral fissure narrowing, and marked upshoot in relation to the affected eye. It is decided to perform resection of the lateral rectus 8.0 mm from the affected eye plus Y split to improve the marked upshoot. After surgery the patients were on orthotropics without upshoot or torticollis(AU)

Surgical effects in patients with Duane retraction syndrome / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To investigate the clinical characteristics and surgical effects in patients with Duane retraction syndrome(DRS).<p>METHODS: Totally 13 patients with DRS during June 2011 to December 2015 were analyzed retrospectively. The data including clinical types and manifestations, surgical methods and outcomes were reviewed and analyzed. <p>RESULTS: There were 11 male cases and 2 female cases who all had no ocular and systemic anomalies. The left eye was involved in 9 cases, the right eye was involved in 3 cases and 1 case involved in both eyes. Six cases were type Ⅰ,1 case was typeⅡand 6 cases were type Ⅲ. Eleven cases had abnormal head posture(AHP), 9 cases had the up- or down-shoot phenomenon. The surgical treatment was designed according to subtypes and clinical features which included medial rectus recession, lateral rectus recession, recession of both horizontal rectus muscles and lateral rectus recession combined with Y splitting. After surgery, horizontal deviation was less than ±10^△in all patients, and AHP disappeared in 4 cases and improved in 7 cases. The up- or down-shoot and global retraction disappeared in 5 cases and improved in 4 cases. Simultaneously, the restriction of ocular motility was improved in all patients. <p>CONCLUSION: The clinical features of DRS are variant in different types. Detailed examination before surgery and reasonable surgical design are important in treatment of patients with DRS.

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence.

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation.

We report a case of Wildervanck syndrome exhibiting Klippel–Feil anomaly, Duane’s retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.

Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome.

Purpose: The purpose of this study is to evaluate the lateral rectus periosteal fixation and partial vertical rectus transpositioning (VRT) as treatment modalities to correct exotropic Duane retraction syndrome (Exo‑DRS). Materials and Methods: Prospective interventional case study of cases of Exo‑DRS with limitation of adduction. A total of 13 patients were subdivided into two groups. Six patients underwent only lateral rectus periosteal fixation (group A) and seven patients also underwent partial VRT (group B). Assessment involved prism bar cover test, abduction and adduction range, extent of binocular single visual field and exophthalmometry. These tests were repeated at 1 week, 1 month and 3 months post‑operatively and data analyzed. Results: The pre‑operative mean values and ranges were 26.2 Δ (22‑35) exotropia for group A and −21.3 Δ (14‑30) exotropia for group B. The post‑operative mean and range was +0.6 Δ esotropia (+20 to −8) for group A and 8 Δ (−2 to −20) exotropia for group B. Mean grade of limitation of abduction changed from −3.8 to −3.6 versus −3.6 to −2.8 and mean grade of limitation of adduction changed from −1.9 to −0.7 versus −1.5 to −0.5 in the groups A and B respectively. Mean binocular single visual field changed from 14.7° to 23.3° in group A and 11.8° to 26.4° in the group B respectively. Conclusion: Lateral rectus periosteal fixation is an effective surgery to correct the exodeviation, anomalous head posture and improving adduction in Exo‑DRS and partial VRT in addition is effective in improving abduction and binocular single visual fields.

Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component.

Background: The management of Duane retraction syndrome (DRS) is challenging and may become more difficult if an associated accommodative component due to high hyperopia is present. The purpose of this study is to review clinical features and outcomes in patients with partially accommodative esotropia and DRS. Setting and Design: Retrospective, non‑comparative case series. Materials and Methods: Six cases of DRS with high hyperopia were reviewed. Results: Of the patients studied, the mean age of presentation was 1.3 years (range: 0.5‑2.5 years). The mean amount of hyperopia was + 5D (range: 3.50‑8.50) in both eyes. The mean follow up period was 7 years (range: 4 months‑12 years). Five cases were unilateral while one was bilateral. Four cases underwent vertical rectus muscle transposition (VRT) and one had medial rectus recession prior to presentation; all were given optical correction. Two (50%) of the four patients who underwent vertical rectus transposition cases developed consecutive exotropia, one of whom did not have spectacles prescribed pre‑operatively. All other cases (four) had minimal residual esotropia and face turn at the last follow‑up with spectacle correction. Conclusion: Patients with Duane syndrome can have an accommodative component to their esotropia, which is crucial to detect and correct prior to surgery to decrease the risk of long‑term over‑correction. Occasionally, torticollis in Duane syndrome can be satisfactorily corrected with spectacles alone.

Surgical Treatment of Face Turn, and Up and Down Shoot in Duane Retraction Syndrome

PURPOSE: To present the results of patients undergoing surgical treatment and determine clinical guidelines for the face turn, and up and down shoot in Duane retraction syndrome (DRS). METHODS: Thirty-four patients with DRS were treated with single horizontal rectus muscle recession, lateral rectus (LR) recession with Y-splitting, or LR recession with Y-splitting combined with medial rectus (MR) recession. The different treatment approaches were based on the angle of deviation in the primary position, versions, and ductions. In all patients, ocular alignment, face turn and up and down shoot were assessed preoperatively and postoperatively. RESULTS: The average standard deviation reduced from 18.5 +/- 6.5 prism diopters (PD) to 4.6 +/- 5.8 PD in horizontal rectus muscle recession and 14.4 +/- 5.5 PD to 1.6 +/- 2.8 PD in LR recession with Y-splitting. LR recession with Y-splitting combined with MR recession was effective in reducing globe retraction. Postoperative 4-mm LR recession with Y-splitting did not change ocular alignment; 7-mm LR recession with Y-splitting showed an average correction of 12.8 PD. Postoperatively, all patients presented a reduction in face turn; however, there was no statistically significant difference between the 2 procedures (Mann-Whitney U test, p = 0.620). CONCLUSIONS: Decisions regarding surgical approaches in DRS should be based on the amount of deviation in primary eye position, the expression of up and down shoot, and the degree of face turn. Surgeons planning Y-splitting of LR with MR recession must consider modifying the MR recession amount due to the smaller LR recession effect of Y-splitting compared with conventional LR recession.

Wildervanck syndrome associated with cleft palate and short stature.

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.

New considerations about Duane's syndrome: [revision] / Novas considerações sobre a síndrome de Duane: [revisão]

The author presents his arguments to state that the Duane's syndrome type III of the Huber's classification does not exist. He takes the chance of those arguments to show why the medial rectus muscle recession in Duane's syndrome with esotropia cripples the adduction more that it does in esotropias of other origins. He shows also why one must recess also the sound eye's medial rectus in Duane's syndrome with esotropia.

O autor expõe argumentos para afirmar que não existe a síndrome de Duane tipo III da classificação de Huber. Aproveitando esses argumentos, mostra por que o retrocesso do músculo reto medial em síndrome de Duane com esotropia prejudica a adução mais do que o faz em esotropias de outras origens. Mostra, também, por que se deve retroceder também o músculo reto medial do olho não afetado em síndrome de Duane com esotropia.

Surgical Results in Duane Retraction Syndrome

PURPOSE: To report the clinical characteristics and the results of a series of patients treated with various strabismus surgery techniques for Duane retraction syndrome (DRS). METHODS: Thirty-eight patients with DRS undergoing surgical treatment were retrospectively reviewed. In all patients, ocular alignment, abnormal head posture and ocular motility disturbance were assessed both preoperatively and postoperatively. The patients were treated with appropriate horizontal muscle recession, Y-splitting combined with horizontal muscle recession, medial rectus recession and lateral rectus resection. RESULTS: The incidence of DRS was greater in females and in the left eye. Type 1 was the most common, and esodeviation was seen most frequently in the primary position. The esotropic patients with DRS turned their faces toward the affected eyes, while the exotropic patients with DRS turned away from the affected eyes. The deviation in the primary position was reduced from an average of 15.0 prism diopters (PD) to 1.5PD. The face turn was reduced from an average of 17.5 degrees to 1.2 degrees. CONCLUSIONS: The primary deviation and abnormal head posture found in DRS can be improved by proper preoperative evaluation and adequate choice of surgical methods.

A Case of Pseudo-Duane's Retraction Syndrome With Old Medial Orbital Wall Fracture

We report a case of pseudo-Duane's retraction syndrome with entrapment of the medial rectus muscle in an old medial orbital wall fracture presenting identical clinical symptoms as Duane's retraction syndrome. A 15-year-old boy presented with persistent limited right eye movement since a young age. Examination showed marked limited abduction, mildly limited adduction, and globe retraction accompanied by narrowing of the palpebral fissure during attempted adduction in the right eye. He showed a right esotropia of 16 prism diopters and his head turned slightly to the right. A slight enophthalmos was noted in his right eye. A computed tomography scan demonstrated entrapment of the medial rectus muscle and surrounding tissues in an old medial orbital wall fracture. A forced duction test revealed a marked restriction of abduction in the right eye. A 5 mm recession of the right medial rectus muscle was performed. Postoperatively, the patient's head turn and esotropia in the primary position were successfully corrected, but there was still some limitations to his ocular movement. The importance of several tests such as the forced duction test and an imaging study should be emphasized in making a diagnosis for limitation of eye movement.