Retraction Syndrome Research Articles

Duane retraction syndrome type 1 with nonsyndromic retinitis pigmentosa – A rare atypical association

Duane Retraction Syndrome (DRS) is a rare congenital disorder of ocular motility typically characterized by a triad of variable duction limitation, globe retraction, and palpebral fissure narrowing on adduction. It is associated with various ocular and nonocular anomalies. We report a case of a 7-year-old boy with a rare association of unilateral type 1 DRS and retinitis pigmentosa. Retinal dystrophies are rarely associated with DRS, and the nature of the relationship between them remains unclear. However, this case report emphasizes the need for close monitoring and long-term follow-up of patients with DRS for retinal dystrophies.

Outcome of extraocular muscle transpositions in various types of strabismus

Background: Transposition surgery of extraocular muscles helps in paralytic strabismus by altering the direction of force in relation to the center of rotation of the eye. Hence, the study was done to report the outcome of muscle transpositions. Materials and Methods: This was a prospective interventional study of 20 patients conducted at our tertiary ophthalmic institute over a period of 2 years and included ten patients with “V” pattern and four patients with “A” pattern strabismus, two patients with monocular elevation deficiency (MED), two patients with third nerve palsy, and one patient each with Duane’s retraction syndrome (DRS) and Crouzon’s syndrome. Fourteen patients underwent correction of horizontal strabismus with vertical transposition of horizontal recti, four patients underwent upward transposition of lateral rectus (LR) muscle, one patient underwent modified Knapp’s procedure, and one patient had “Y” split of LR muscle with transposition. Results: Ten patients with “V” pattern strabismus and four patients with “A” pattern strabismus had satisfactory collapse of pattern postoperatively with <10 prism diopters (PD) and 15 PD of mean residual horizontal strabismus, respectively. Both patients with MED had good improvement in primary position alignment. Upshoot in DRS patient was corrected. Two out of six patients who had preoperative limitation of duction had improvement postoperatively. Conclusion: Extraocular muscle transposition resulted in alignment of eyes, collapse of alphabet pattern, and improvement in ocular motility in these patients. Proper patient selection and planning of the suitable type of transposition surgery helps in achieving the desired outcome.

Clinical profile of esotropia patients in a tertiary care center with application of the CEMAS classification

Abstract Aims: This studyaims to study the clinical profile of patients with esotropia (ET) in a tertiary care centre. Materials and Methods: A cross-sectional observational study was carried out on 94 patients with ET seen in the ophthalmology outpatient department of a tertiary care center from December 2018 to June 2020. Results: A female preponderance was noted with male:female ratio of 0.8:1. Although 79 patients (84.04%) had noticed the onset of ET in the first decade of life, only 50 (53.19%) of the patients presented to the ophthalmologist in the first decade of life. Family history of ET was present in only 7.44% of patients. Amblyopia was present in 31 (32.97%) patients. The most common refractive error seen was hypermetropia followed by hypermetropic astigmatism. Based on the Classification for Eye Movement Abnormalities and Strabismus (CEMAS), there were 36 (40.42%) patients with refractive accommodative ET, 15 (15.95%) of infantile ET, 13 (13.82%) patients had ET due to visual/neurological disease, 16 (15.95%) patients had cranial neuropathy and there was one child with neuromuscular cause – Duane’s retraction syndrome (Type 1). Conclusion: Most of the patients in the study sought consultation for the management of ET late in life though it was noticed in early childhood. Majority of the patients had refractive accommodative ET. These can be managed appropriately if diagnosed early. A significant number of patients had amblyopia as sequelae of untreated ET. Early diagnosis and appropriate management at the right time are very important in patients with ET to prevent the development of amblyopia and maintain binocularity.

Multimodal imaging in iris retraction syndrome

Definition of iris retraction syndrome (IRS) has been changing over the years. The purpose of this article is to document through multimodal imaging the clinical signs found in two individuals who presented with IRS. This is a case series. Multimodal imaging was performed in a 34-year-old and a 57-year-old male patient with IRS. A literature search was conducted including the original articles that gave the concepts for the definition of IRS. IRS has been defined in the literature based on clinical and histological findings described in different case series. However, this is the first publication that documents through multimodal imaging the clinical signs found in two individuals who presented with IRS.

MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis.

To investigate the alterations in extraocular muscles (EOMs) by magnetic resonance imaging (MRI) among patients diagnosed with Duane retraction yndrome (DRS) and congenital fibrosis of the extraocular muscles (CFEOM), who present with various cranial nerve anomalies in an attempt to enhance the clinical diagnostic process. A case-control study was conducted to evaluate 27 patients with DRS and 14 patients with CFEOM. All patients underwent MRI scans of the brainstem and orbital examination. Neurodevelopmental assessments were conducted through MRI, and maximum cross-sectional area and volumes of EOMs were obtained. Three types of models were constructed using machine learning decision tree algorithms based on EOMs to predict disease diagnosis, cranial nerve abnormalities, and clinical subtypes. Patients with bilateral CN VI abnormalities had smaller volumes of LR, MR, and IR muscles compared to those with unilateral involvement (P < 0.05). Similarly, patients with CFEOM and unilateral third cranial nerve abnormalities had a smaller maximum cross-section of the affected eye's SR compared to the contralateral eye (P < 0.05). In patients with both CN III and CN VI abnormalities, the volume of SR was smaller than in patients with CN III abnormalities alone (P < 0.05). The prediction model using EOMs volume showed a diagnostic precision of 82.5% for clinical cases and 60.1% for predicting cranial nerve abnormalities. Nonetheless, the precision for identifying clinical subtypes was relatively modest, at only 41.7%. The distinctive volumetric alterations in EOMs among individuals exhibiting distinct cranial nerve anomalies associated with DRS or CFEOM provide valuable diagnostic insights into to Congenital Cranial Neurodevelopmental Disorders (CCDDs). MRI analysis of EOMs should thus be regarded as a crucial diagnostic modality.

Clinical study of esodeviations in children

Esotropia or convergent strabismus is a common type of squint in children. The esodeviation, the refractive error and the amblyopia should be examined and treated early to achieve good cosmetic correction and to improve Visual acuity.A meticulous history of 25 children up to age of 12 years who presented with esodeviations was taken including the age of onset, duration and previous treatment. They were examined for amount and type of deviation by cover test, hirschberg corneal reflex test, Prism bar cover test and evaluated for refractive error under full cycloplegic correction, for Binocular Single Vision, diplopia, suppression and amblyopia by Worth four-dot test and RAF ruler. Ocular movements and fundus findings were recorded.11 male and 14 female children with esodeviations with age of presentation varying from 9 months to 12 years were evaluated for type of esotropia. In our study the most common type seen in 12 cases (48%) is refractive accommodative esotropia with high hypermetropia. Non-refractive accommodative esotropia greater for near with high AC/A ratio in 5 patients (20%), Partially accommodative (mixed) esotropia in 2 cases, acquired non-accommodative esotropia seen in 2 patients. 1 case each is seen in Infantile esotropia, in Sensory esotropia, in child with Duane’s retraction syndrome (DRS) and in child having cerebral visual impairment (CVI).Our study aimed to diagnose and manage the various types of esodeviations at an early age so as to maintain binocular alignment and a good Visual acuity to avoid progression to amblyopia.

An Alternative in Managing Duane Retraction Syndrome Type I Using Modified Nishida Procedure: A Case Report

Introduction : Various surgical approaches have been proposed to address the challenge in managing abduction deficit in Duane Retraction Syndrome (DRS) Type I, with no clear guidelines to achieve optimal result. This report aims to describe the outcome of combining medial rectus (MR) recession and modified Nishida procedure to improve abduction in DRS Type I.&#x0D; Case Illustration : Twenty six year-old female came with inability to abduct her left eye (LE) since early childhood and an abnormal left head turn. No complaints of double vision nor visual impairment. There was -5 abduction on LE with a noticeable narrowing of vertical palpebral fissure during adduction. Prism alternate prism cover test shared a 30 PD esotropia with normal anterior and posterior segment. Patient was assessed with DRS Type I of LE and managed with 5mm MR recession combined with modified Nishida procedure (vertical rectus transposition without tenotomy and muscle splitting). On postoperative day 1 and last follow-up (1 year), the alignment was ortophoric, abduction improvement of -2, and diminished anomalous head posture.&#x0D; Discussion : Although studies have only reported successful cases of modified Nishida procedure in CN VI palsy, it can be assumed that the procedure can also be implemented to treat lateral rectus muscle innervation abnormality such as in DRS type I. Surgical intervention may not normalize abduction deficit. However, the procedure successfully corrects ocular alignment, eliminates anomalous head posture, and able to improve abduction with no complications.&#x0D; Conclusion : Modified Nishida procedure can be implemented as an alternative in managing DRS type I with relatively satisfactory result.

Rates of Reoperation in Duane Retraction Syndrome

PurposeTo investigate the types of strabismus surgeries performed and the reoperation rate in patients with Duane Retraction Syndrome (DRS). DesignRetrospective cohort analysis MethodsAn insurance claims dataset was used to identify patients diagnosed with DRS between 2007 and 2021. We recorded the type of strabismus surgery performed and the timing and frequency of reoperations. The hazard ratios (HR) for reoperation were estimated according to the surgical methods using Cox regression analysis. ResultsOf the 9435 patients diagnosed with DRS, 1023 (10.8%) underwent at least one strabismus operation. The median age at surgery was 5.0 years, and patients were followed for an average of 3.8 ± 3.0 years after their initial strabismus surgery. Most of the surgeries only involved horizontal muscle(s) (n = 734 [71.7%]). However, some patients underwent surgeries on vertical muscle(s) (n = 132 [12.9%]), vertical muscle(s) with transposition (n = 102 [10.0%]), and horizontal muscle with transposition (n = 51 [5.0%]). The estimated 5-year rate of reoperation was 18.2% (95% CI 15.0% - 22.2%). Compared to surgery on horizontal muscle(s) only, vertical muscle surgery (HR, 2.01; 95% confidence interval, 1.30-3.11; p = 0.002) and vertical muscle surgery coupled with transposition (HR, 1.79; 95% confidence interval, 1.06-3.02; p = 0.03) had an increased risk of reoperation. ConclusionStrabismus surgery on one or more horizontal muscles is the most common type of strabismus surgery performed on patients with DRS. Approximately 1 in 7 patients with DRS who had strabismus surgery underwent a reoperation. Patients who underwent vertical muscle surgery had a higher risk of undergoing a reoperation.

Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome

ABSTRACT Purpose This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction syndrome and to present our experience on managing these cases. Methods Four individuals from one family were reviewed by ophthalmologic examinations, in which two affected and two unaffected individuals were revealed. MRI scans were performed on the two patients. Relevant gene mutations were screened by the next-generation sequencing technology and confirmed by Sanger sequencing technology. Results The six-year-old proband presented with special clinical features of severe horizontal gaze dysfunction, exotropia and mild scoliosis. His mother showed significantly limited binocular abductions, with retraction of eyeballs in adduction. From MRI scans, abducens nerves were not observed in both patients and the oculomotor nerve was slightly thin in the proband. The proband and his mother shared the same CHN1 gene mutation site (c. 62A>G; p.Y21C). Strabismus surgery was performed on the proband to correct the primary gaze exotropia. (NM_001822: exon3 or NM_001025201: exon4: c. 62A>G; p.Y21C) Conclusions A novel CHN1 gene mutation was revealed from a Chinese family with Duane retraction syndrome. Remarkably, the proband and his mother presented different clinical features of ocular motility disorder. Strabismus correction surgery and amblyopia training helped to improve the appearance and visual function of the proband.

Distribution of Ocular Deviation among the Different Types of Duane Retraction Syndrome

Distribution of Ocular Deviation among the Different Types of Duane Retraction Syndrome

The Frequency and Manifestations of Ocular Causes of Abnormal Head Posture

ABSTRACT Purpose To determine the frequency and manifestations of different ocular causes of abnormal head posture (AHP). Method This prospective, consecutive case series study was performed on 149 patients with ocular AHP at Farabi hospital, Iran, from February 2020 to June 2021. All patients underwent routine ophthalmic examinations. The manifestation of AHP was determined by direct observation from three viewing angles, while the patient read the smallest line on the vision chart that they could see. In front, above, and lateral gazes, observations were performed to find head tilt, head turn, and chin abnormal position, respectively. A picture with habitual AHP was taken from all patients. The amount of head tilt was measured by calculating the angle between the line that connects the lips center to the center of the eyebrows and the vertical line using the Corel Draw X7 computer software. Results The mean age of 149 patients with ocular AHP [101 (67.8%) males and 48 (32.2%) females] was 16.2 ± 12.2 (range, 2–57) years. The most common ocular sources of AHP were found to be superior oblique palsy (SOP) in 66 (44.3%) patients, 54 (36.2%) cases with Duane’s retraction syndrome (DRS), and 12 (8.1%) patients with nystagmus. Other frequent causes of ocular AHP were dissociated vertical deviation (DVD) in 5 (3.4%), A and V pattern strabismus in 3 (2.0%), and 2 cases (1.3%) in each of Brown syndrome, inferior rectus (IR) palsy, and congenital fibrosis of the extraocular muscles (CFEOM). The most common manifestations of AHP in all cases were “pure head turn” (48.3%), followed by “pure head tilt” (24.8%), “simultaneous head tilt and head turn” (20.8%), and “chin up” (6.0%). The mean head tilt among all patients with head tilt was 10.4° ± 8.9° (range, 5.0°−31.7°). Conclusion The most frequent ocular sources of AHP were SOP, DRS, and nystagmus, followed by DVD, A and V pattern strabismus, IR palsy, CFEOM, and Brown syndrome. In addition, pure head turn and pure head tilt were the most common manifestations of ocular AHP but were not always seen in the same direction or combination as previously reported with these etiologies.

Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.

Duane retraction syndrome (DRS) is a rare congenital eye movement disorder causing by the dysplasia of abducens nerve, and has highly variable phenotype. MRI can reveal the endophenotype of DRS. Most DRS cases are sporadical and isolated, while some are familial or accompanied by other ocular disorders and systemic congenital abnormalities. CHN1 was the most common causative gene for familial DRS. Until now, 13 missense variants of CHN1 have been reported. In this study, we enrolled two unrelated pedigrees with DRS. Detailed clinical examinations, MRI, and the whole exome sequencing (WES) were performed to reveal their clinical and genetic characteristics. Patients from pedigree-1 presented with isolated DRS, and a novel heterozygous variant c.650 A > G, p. His217Arg was identified in CHN1 gene. Patients from pedigree-2 presented with classic DRS and abnormalities in auricle morphology, and the pedigree segregated another novel heterozygous CHN1 variant c.637 T > C, p. Phe213Leu. A variety of bioinformatics software predicted that the two variants had deleterious or disease-causing effects. After injecting of two mutant CHN1 mRNAs into zebrafish embryos, the dysplasia of ocular motor nerves (OMN) was observed. Our present findings expanded the phenotypic and genotypic spectrum of CHN1 related DRS, as well as provided new insights into the role of CHN1 in OMN development. Genetic testing is strongly recommended for patients with a DRS family history or accompanying systemic congenital abnormalities.

Unilateral Exotropic Type II Duane’s Retraction Syndrome Associated with Tetralogy of Fallot: A Case Report

Duane’s retraction syndrome is a rare congenital cranial disorder and special form of strabismus that manifests with the limitation of ocular movements in horizontal gaze, globe retraction, and narrowing of the palpebral fissure in adduction. Its causeis a teratogenic cranial innervational defect at the 4th-8th weeks of gestation. It is estimated that up to one third of these patients may have other congenital non-ocular anomalies. In this case, we present an association of unilateral exotropictype II Duane’s retraction syndrome and tetralogy of Fallot in an eleven years old boy. He had no other systemic disease or congenital anomaly, and his family history was negative for strabismus and congenital heart disease. Duane’s retraction syndrome can be associated with tetralogy of Fallot due to the matching time of gestational development of these two conditions, although this may be coincidental.

Magnetic Resonance Imaging Findings in Patients With Duane Retraction Syndrome.

Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the oculomotor nerve (CN III). The purposes of this study were to investigate the morphological characteristics of the oculomotor nerve (CN III), the abducens nerve (CN VI), and the extraocular muscles in patients with clinically diagnosed Duane retraction syndrome (DRS) using MRI. In addition, we assessed the association between ocular motility, horizontal rectus muscle volumes, and CN III/VI in patients with Duane retraction syndrome (DRS). The study comprised 20 orthotropic control subjects (40 eyes) and 42 patients with Duane syndrome (48 eyes), including 20 patients with DRS Type I (24 eyes), 5 patients with DRS Type II (6 eyes), and 17 patients with DRS Type III (18 eyes). Three-dimensional (3D) T1/2 images of the brainstem and orbit were obtained to visualize the cranial nerves, especially the abducens (VI) and oculomotor (III) nerves, as well as extraocular muscles. Based on the clinical classification, among 42 patients, MRI showed that the abducens nerves (CN VI) on the affected side were absent in 24 of 24 eyes (100%; 20 patients) with Type I DRS and in 16 of 18 eyes (88%; 16 patients) with Type III DRS. However, CN VI was observed in 6 of 6 eyes (100%; 5 patients) with Type II DRS and in 2 of 18 eyes (11%) with Type III DRS. CN III was observed in all patients. The oculomotor nerves on the affected side were thicker than those on the nonaffected contralateral side in DRS Type I ( P < 0.05) and Type III ( P < 0.05), but not in DRS Type II. Smaller LR and larger MR volumes were shown in the affected eye than that in the nonaffected eye in DRS Types I and III. Based on the presence or absence of CN VI, there was a tendency for thicker oculomotor nerves in the affected eye than in the nonaffected eye in the absence groups ( P < 0.05). However, no significant difference was found in the present group. In the CN VI absence groups, similar results were found in the affected eyes than in the nonaffected eyes as in DRS Types I and III. In addition, the presence of CN VI was correlated with better abduction ( P = 0.008). The LR and MR volumes have positive correlations with the oculomotor nerve diameter in the affected eye. However, there was no correlation between the range of adduction/abduction and the LR/MR ratio in patients with or without an abducens nerve. Different types of DRS have different characteristic appearances of CN VI and CN III on MRI. Horizontal rectus muscles have morphological changes to adapt to dysinnervation of CN VI and aberrant innervation of CN III. Thus, these neuroimaging findings may provide a new diagnostic criterion for the classification of DRS, improving the comprehension of the physiopathogenics of this disease.

A challenging diagnosis of narcolepsy type 2 in a patient with Duane syndrome

Duane syndrome is a form of congenital strabismus with horizontal eye movement limitation. This may present a diagnostic challenge when assessing for rapid eye movements during stage REM utilizing PSG or MSLT. We present a case of a child with Duane syndrome who presented with excessive daytime sleepiness and underwent evaluation for hypersomnia. His eye movement limitation provided a challenge in identifying stage REM. In patients with eye movement limitations or prosthetic eyes, it is necessary to look for other features of stage REM such as low chin EMG tone and EEG pattern.

Does Head Tilt Influence Facial Appearance More Than Head Turn?

To evaluate the frequency of facial asymmetry parameters in patients with head tilt versus those with head turn. 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. 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). 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.

Novel frameshift mutations in SALL4 in two Chinese families with Okihiro syndrome

In the present study, clinical manifestations of two Chinese Okihiro syndrome families were analyzed, and genetic detections were performed on the two probands by exome sequencing and verified by Sanger sequencing for family members to determine the biological pathogenesis. Prenatal diagnoses were provided for three high-risk fetuses. The affected members exhibited a wildly spectrum of phenotypes, including ultrasound abnormalities of skeletal system (radius deformity and abnormal posture), and cardiac system (persistent common arterial trunk and ventricular septal defect) in the prenatal period of family 1, the severe phenotypes (grossly shortened and deformed forearm, Duane's anomaly and hearing loss), and the mild ones (usually only thenar dysplasia, or short radius styloid process). Two SALL4 variants, c.844delC p.(Q282Kfs*8) and c.2210delG p.(G737Vfs*23), have been identified respectively in two probands, and c.2210delG of SALL4 gene was unreported previously. The two variants were verified in all affected individuals, not in normal family members. Genotyping results of three fetuses indicated that one fetus was normal, and the two fetuses with heterozygous variation were affected. The two variants of SALL4 gene, c.844delC p.(Q282Kfs*8) and c.2210delG p.(G737Vfs*23), were the molecular pathological cause of Okihiro syndrome in the present study and enriched the spectrum of SALL4 variants. Our study provides accurate prenatal genetic diagnosis for the two families to avoid the birth of affected children.

Exploring Mesenteric Panniculitis: Etiology, Clinical Features, and Advances in Diagnosis and Treatment

Mesenteric panniculitis is a rare disease characterized by chronic inflammation of the adipose tissue of the mesentery. Also known as mesenteric lipogranulomatosis or mesenteric retraction syndrome, this condition presents with the formation of inflammatory nodules in the mesentery, composed of adipose tissue, inflammatory cells, fibrosis and vascular changes. Although the exact etiology of mesenteric panniculitis is not yet fully understood, a relationship with abnormal immune responses, genetic predisposition, autoimmune diseases and previous infections has been suggested. In addition, a possible association with systemic diseases such as rheumatoid arthritis, Crohn's disease and systemic lupus erythematosus has been raised. Patients with mesenteric panniculitis may present with a variety of symptoms, including chronic and diffuse abdominal pain, tenderness in the affected area, weight loss, nausea, vomiting and changes in bowel patterns. In more severe cases, inflammatory nodules may compress adjacent structures, which can lead to complications such as intestinal obstruction or mesenteric ischemia.

Etiology of congenital ptosis - literature review

Karolina Ridikaitė1, Dovilė Bučaitė1, Dalia Jarušaitienė1, 2 1Lithuanian University of Health Sciences, Academy of Medicine, Faculty of Medicine, Kaunas, Lithuania 2Lithuanian University of Health Sciences Kauno klinikos, Department of Ophthalmology, Kaunas, Lithuania Abstract Background. Ptosis is abnormal drooping of the upper eyelid (> 2 mm). It is divided into two categories: congenital ptosis, which is present at birth, and acquired ptosis. The pathogenesis of congenital ptosis is thought to be due to a disorder of muscle development and damage to the innervation of the muscles. In contrast, there is currently no precise description of the pathogenesis of congenital eyelid ptosis. Aim. To present the main clinical manifestations of congenital ptosis, based on the available scientific literature. Material and methods. A literature review was conducted in the “PubMed” database using the terms “congenital ptosis” and “myogenic congenital ptosis” and “neurogenic congenital ptosis” from 2010 to 2023. Inclusion criteria was represented by articles relevant to these searches. Results. 1) Myogenic ptosis occurs when the development of the muscle responsible for elevating the upper eyelid is affected and replaced with other tissues. The condition is commonly seen as isolated congenital ptosis or blepharophimosis-ptosis-inverse epicanthal syndrome. 2) Neurogenic ptosis is characterized by an interruption in the nerve signals that control the muscles responsible for elevating the upper eyelid. The condition commonly presents as congenital fibrosis of the extraocular muscles, Marcus Gunn syndrome, Duane syndrome, Moebius syndrome, hereditary congenital facial paresis, Horner’s syndrome and congenital III cranial nerve palsy. Conclusions. Myogenic and neurogenic ptosis are most commonly described in the literature, with a higher prevalence in childhood. In contrast, the underlying mechanism of etiopathogenesis remains unclear. Keywords: congenital ptosis, myogenic congenital ptosis, neurogenic congenital ptosis Full article https://doi.org/10.53453/ms.2023.5.12

DUANE SYNDROME:

Duane Syndrome is a rare disorder, also known as Stilling-Turk-Duane Syndrome, which can produce a form of congenital strabismus, most often sporadic, presented by autosomal dominant inheritance, leading to difficulties in ocular motility due to alterations or failures in the innervation of the lateral rectus muscle innervated by the Vl cranial nerve. On this occasion, limitation or absence of abduction, retraction of the eyeball and palpebral narrowing are observed. Binocular vision is compromised, and there is no fusion of images, and the presence of torticollis is common. The prevalence is higher in females and commonly in the left eye. The evaluation takes place through Electromyography. The objective is through a literature review indexed on the platforms Bireme, NiH, Google Scholar and Scielo to demonstrate to primary visual health professionals, especially optometrists, the identification and conduct for these disorders.