Review

Authors: Ramesh Kekunnaya, Mithila Negalur

Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Cases of bilateral DRS may have variable presentation depending upon the type of presentation in each eye. As regards its management, DRS classification based on primary position deviation as esotropic, exotropic or orthotropic is more relevant than Huber's classification before planning surgery. Surgical approach to these patients is challenging and must be individualized based on the amount of ocular deviation, abnormal head position, associated globe retraction and overshoots.

PubMed: 29133973
DOI: 10.2147/OPTH.S127481

Authors: Meenakshi Swaminathan

PubMed: 35937726
DOI: 10.4103/ojo.ojo_141_22

Authors: Murat Kocamaz, Ebru Demet Aygit, Asli Inal...

OBJECTIVES

Duane retraction syndrome (DRS) is a congenital syndrome characterized by limitation in adduction and/or abduction eye movements and narrowing of the palpebral fissure in adduction, and may include globe retraction, upshoot or downshoot. Several systemic abnormalities, syndromes, and additional ocular findings can accompany DRS. This study is an evaluation of eye findings in patients with DRS.

METHODS

The records of 632 patients with DRS who were followed up between 1995 and 2016 were reviewed retrospectively. Patients with a follow-up of less than 6 months and patients with a history of eye/cranial trauma or injury were not included in the study. Before the patients were examined, a detailed anamnesis was obtained. Details of the medical records, including additional systemic diseases, were recorded.

RESULTS

The average of follow-up time was 45 months (min-max: 6-128 months). There were 255 male and 377 female patients. A total of 34 patients (5.4%) had additional ocular abnormalities. The most frequently observed ocular pathologies associated with DRS were congenital ptosis (n=6, 0.94%) and coloboma of the iris (n=4, 0.63%).

CONCLUSION

Most cases of DRS are observed as isolated. However, various ocular and systemic abnormalities and syndromes are associated with DRS. In particular, synkinetic syndromes may frequently be seen alongside DRS. Therefore, a complete ocular examination and anamnesis are crucial in cases with DRS.

PubMed: 35187428
DOI: 10.14744/bej.2019.36854

Authors: Unnikrishnan Suma, Mohammed Ferzana, Valiyaveetil Babitha...

PURPOSE

To describe the clinical profile and magnetic resonance imaging findings of the brain in Duane retraction syndrome (DRS) and determine whether there is an association between clinical presentation and magnetic resonance imaging (MRI) brain characteristics.

MATERIALS AND METHODS

This was a cross-sectional study done at a tertiary care center in South India. We recruited and analyzed the clinical characteristics of 54 patients with DRS. MRI of the brain with fast imaging employing steady-state acquisition (FIESTA) was performed in 41 cases, and the cisternal segment of the sixth nerve was studied. Statistical analysis was done to determine any association between the radiological and clinical features.

RESULTS

Type 1 DRS was predominant, followed by Type 3 DRS and Type 2 DRS. 9.3% of cases were bilateral and 11.1% were familial. Orthotropia was most common, followed by esotropia and exotropia. The MRI brain showed the absence of the cisternal part of the sixth nerve on the affected side in 82% of Type 1 and 75% of Type 3 unilateral DRS. Both the abducens nerves were visualized in 19.5% of the patients with unilateral DRS. There was no statistically significant association between MRI brain findings and the clinical features.

CONCLUSIONS

MRI brain with FIESTA shows absent or hypoplastic sixth nerve in most cases of Type 1 and Type 3 DRS. However, around 20% of DRS cases may show the presence of the cisternal part of the sixth nerve. Hence, clinicians must be cautious when ruling out DRS on the basis of MRI brain findings. Although aplasia of the sixth nerve is the most frequent MRI finding, it may not be the sole etiologic factor.

PubMed: 35937749
DOI: 10.4103/ojo.ojo_133_21

Review

Authors: Mohammad Reza Akbari, Vahideh Manouchehri, Arash Mirmohammadsadeghi...

PURPOSE

Surgical treatment in Duane retraction syndrome (DRS) can be very challenging even for the strabismus specialists because of a wide spectrum of diversity in clinical manifestations. The purpose of this article is to review these different surgical treatments.

METHODS

A comprehensive search was performed using PubMed database with the different keywords of "Duane retraction syndrome" and "surgery". Articles were selected from original English papers published since 2000. The full text of the selected articles was reviewed, and some articles were added based upon the references of the initial articles. We also provided selected case examples about some of these procedures.

RESULTS

125 articles were found in the initial search of which 37 articles were mostly related to the topic of this review. The number finally increased to 59 articles after considering the relative references of the initial articles. Different surgical methods performed on horizontal and vertical rectus muscles (recession, resection, transposition, Y splitting, periosteal fixation and posterior fixation suture) are reviewed. Careful selection of the surgical technique is important to achieve optimal results.

CONCLUSION

With accurate diagnosis of patients with DRS and proper surgical management, several adverse situations associated with this syndrome (amblyopia, abnormal head posture, upshoot, downshoot, and muscle underaction) can be prevented.

PubMed: 29270470
DOI: 10.1016/j.joco.2017.08.008

Authors: Katherine A Donovan, Jian An, Radosław P Nowak...

In historical attempts to treat morning sickness, use of the drug thalidomide led to the birth of thousands of children with severe birth defects. Despite their teratogenicity, thalidomide and related IMiD drugs are now a mainstay of cancer treatment; however, the molecular basis underlying the pleiotropic biology and characteristic birth defects remains unknown. Here we show that IMiDs disrupt a broad transcriptional network through induced degradation of several CH zinc finger transcription factors, including SALL4, a member of the -like family of developmental transcription factors. Strikingly, heterozygous loss of function mutations in result in a human developmental condition that phenocopies thalidomide-induced birth defects such as absence of thumbs, phocomelia, defects in ear and eye development, and congenital heart disease. We find that thalidomide induces degradation of SALL4 exclusively in humans, primates, and rabbits, but not in rodents or fish, providing a mechanistic link for the species-specific pathogenesis of thalidomide syndrome.

Topics: Abnormalities, Multiple; Adaptor Proteins, Signal Transducing; Amino Acid Sequence; CYS2-HIS2 Zinc Fingers; Duane Retraction Syndrome; Embryonic Stem Cells; HEK293 Cells; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Lower Extremity Deformities, Congenital; Peptide Hydrolases; Phenotype; Protein Binding; Proteolysis; Reproducibility of Results; Species Specificity; Substrate Specificity; Teratogens; Thalidomide; Transcription Factors; Ubiquitin-Protein Ligases; Upper Extremity Deformities, Congenital

PubMed: 30067223
DOI: 10.7554/eLife.38430

Authors: Masoud Khorrami-Nejad, Mohammad Reza Akbari, Babak Masoomian...

PURPOSE

To compare the prevalence, magnitude, and type of astigmatism among patients with different Duane Retraction Syndrome (DRS) types.

METHOD

This retrospective cross-sectional study reviewed the records of 312 DRS patients. Patients were categorized into DRS Types 1, 2, 3, and bilateral cases. Refractive errors and visual acuity were analyzed, emphasizing the prevalence of astigmatism types, specifically with-the-rule (WTR), against-the-rule (ATR), and oblique, as well as the power vectors for each DRS subtype.

RESULTS

Our study included 312 patients with DRS, comprising 44.6% males and a median age of 18.5 years (interquartile range [IQR]: 7-27). Of these, 280 had unilateral DRS and 32 had bilateral DRS. The median age for unilateral DRS patients was 19 years (IQR: 7-27; 43.2% males), whereas for bilateral DRS patients, it was 16 years (IQR: 6-29.2; 56.3% males). In all DRS patients, 180 (57.7%) were diagnosed with Type 1 DRS, 87 (27.9%) with Type 2 DRS, and 45 (14.4%) with Type 3 DRS. In unilateral cases, WTR astigmatism was the most prevalent (56.8%), followed by oblique (23.6%) and ATR astigmatism (19.6%). Bilateral DRS patients exhibited a similar distribution in both eyes, with WTR astigmatism also being predominant. The comparative analysis of power vectors indicated that Type 1 DRS exhibited a greater prevalence of WTR and oblique astigmatism, whereas ATR astigmatism was the predominant pattern in Types 2 and 3. A comparison of cylindrical powers and power vectors among fellow eyes of different DRS subtypes revealed that Type 2 DRS had significantly higher cylindrical power (p = 0.017) and a greater tendency toward ATR astigmatism (p = 0.038) than fellow eyes in other subtypes, suggesting that astigmatic changes may also occur in fellow eyes.

CONCLUSION

Our study demonstrates a high prevalence of astigmatism, particularly WTR astigmatism, in DRS patients. Furthermore, we found significant associations between specific astigmatism patterns and DRS subtypes, suggesting a potential link between extraocular muscle innervation, co-contraction, and corneal shape. These findings highlight the importance of comprehensive astigmatism assessment in DRS patients for optimal refractive management.

Topics: Humans; Duane Retraction Syndrome; Male; Astigmatism; Retrospective Studies; Female; Cross-Sectional Studies; Adolescent; Young Adult; Visual Acuity; Adult; Child; Prevalence; Refraction, Ocular

PubMed: 39794722
DOI: 10.1186/s12886-025-03855-w

Review

Authors: Nripen Gaur, Pradeep Sharma

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.

Topics: Disease Management; Duane Retraction Syndrome; Eye Movements; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Vision, Binocular; Visual Fields

PubMed: 30574884
DOI: 10.4103/ijo.IJO_967_18