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Taiwan Journal of Ophthalmology 2023Duane syndrome is one of the most common restrictive congenital strabismus characterized by variable horizontal duction deficits with globe retraction and shoots on... (Review)
Review
Duane syndrome is one of the most common restrictive congenital strabismus characterized by variable horizontal duction deficits with globe retraction and shoots on attempted adduction and narrowing of the palpebral aperture. It is now listed as a congenital cranial dysinnervation disorder. The disease is usually unilateral with female preponderance. Basic etiopathogenesis involves dysinnervation of the lateral rectus (LR) due to aplastic/hypoplastic abducens nucleus with a secondary aberrant supply to the LR by the medial rectus (MR) subnucleus of the oculomotor nerve. Diagnosis of the disease is usually clinical. Due to the variable presentation of the disease, surgical management is a challenge and has to be individualized to achieve alignment in the primary gaze, reduction in globe retraction, upshoots and downshoots, and correction of any abnormal head posture. Differential recessions of the lateral and MR muscles are done to correct esotropia or exotropia in the primary gaze. For globe retraction and shoots, Y-split or periosteal fixation of the LR muscles is done depending on the severity.
PubMed: 38249504
DOI: 10.4103/tjo.TJO-D-23-00078 -
Journal of Optometry Jan 2024To report the visual and refractive characteristics and the prevalence of amblyopia in patients with different types of Duane's Retraction Syndrome (DRS).
PURPOSE
To report the visual and refractive characteristics and the prevalence of amblyopia in patients with different types of Duane's Retraction Syndrome (DRS).
METHOD
This retrospective study was performed on hospital records of 582 DRS patients at Farabi Hospital, Iran, from 2012 to March 2022.
RESULTS
The mean age of patients was 19.4 ± 11.9 (range, 3-70) years [335 (57.6 %) females and 247 (42.4 %) males (P < .001)]. DRS type I, II, III, and IV were presented in 347 (59.6 %), 148 (25.4 %), 82 (14.1 %), and 5 (0.9 %) patients, respectively. There were 530 (91.1 %) patients with unilateral and 52 (8.9 %) with bilateral involvement. In the unilateral patients, the DRS eyes' corrected distance visual acuity (CDVA) and astigmatism were significantly worse than the Non-DRS Eyes (P < .001). The mean amount of all refractive and visual parameters in bilateral patients' right or left eyes was significantly lower than in unilateral patients' non-DRS eyes (all P < .05). Anisometropia was observed in 75(12.9 %) of the patients. Amblyopia was observed in 18.5 % (98 patients) and 36.5 % (19 patients) of unilateral and bilateral DRS patients, respectively (P < .001). In unilateral patients, amblyopia was found in 57 (16.4 %) patients with Type I, 22 (14.9 %) patients with Type II, 16 (19.5 %) patients with Type III, and 3 (60 %) patients with Type IV. Forty-four (37.6 %) of patients with amblyopia had anisometropia.
CONCLUSION
This large-scale study indicates that DRS types differ in terms of refractive error, visual acuity, and the prevalence of amblyopia and anisometropia. Clinicians should be aware of the clinical features associated with different types of DRS.
PubMed: 38215611
DOI: 10.1016/j.optom.2023.100508 -
Journal of Neuro-ophthalmology : the... Mar 2024Duane 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...
BACKGROUND
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).
METHODS
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.
RESULTS
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.
CONCLUSIONS
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.
Topics: Humans; Duane Retraction Syndrome; Abducens Nerve; Oculomotor Muscles; Orbit; Magnetic Resonance Imaging
PubMed: 37682628
DOI: 10.1097/WNO.0000000000001909 -
Journal of Ophthalmic & Vision Research 2023To evaluate the frequency of facial asymmetry parameters in patients with head tilt versus those with 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 ( 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 ( = 0.004) and the mean relative facial size was 1.027 0.018 and 1.018 0.014, respectively ( = 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 ( 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.
PubMed: 37600919
DOI: 10.18502/jovr.v18i3.13778 -
Journal of Pediatric Ophthalmology and... 2024Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The...
Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The authors describe a 58-year-old woman who after craniotomy developed incomitant left exotropia with an adduction deficit; the globe retracted and palpebral fissure narrowed with attempted ocular adduction. .
Topics: Female; Humans; Middle Aged; Duane Retraction Syndrome; Strabismus; Eyelids; Iatrogenic Disease
PubMed: 38306234
DOI: 10.3928/01913913-20231214-04 -
Hormone Research in Paediatrics 2024The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for...
INTRODUCTION
The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for the development of neural tissue, kidney, heart, and limbs. Pathogenic SALL4 variants cause Duane-radial ray syndrome (Okihiro syndrome), acro-renal-ocular syndrome, and Holt-Oram syndrome. We report a family with vertical transmission of a SALL4 pathogenic variant leading to radial hypoplasia and kidney dystopia in several generations with additional growth hormone deficiency (GHD) in the proband.
CASE PRESENTATION
Our male proband was born at the 39th week of gestation. He was born small for gestational age (SGA; birth weight 2,550 g, -2.2 SDS; length 47 cm, -2.0 SDS). He had bilateral asymmetrical radial ray malformation (consisting of radial hypoplasia, ulnar flexure, and bilateral aplasia of the thumb) and pelvic kidney dystopia, but no cardiac malformations, clubfoot, ocular coloboma, or Duane anomaly. He was examined for progressive short stature at the age of 3.9 years, where his IGF-1 was 68 μg/L (-1.0 SD), and growth hormone (GH) after stimulation 6.2 μg/L. Other pituitary hormones were normal. A brain CT revealed normal morphology of the cerebral midline and the pituitary. He had a dental anomaly - a central mandibular ectopic canine. MRI could not be done due to the presence of metal after multiple corrective plastic surgeries of his hands. His mother's and father's heights are 152.3 cm (-2.4 SD) and 177.8 cm (-0.4 SD), respectively. His father has a milder malformation of the forearm. The affected paternal grandfather (height 164 cm; -2.3 SD) has a radial ray defect with missing opposition of the thumb. The family reports a similar phenotype of radial dysplasia in the paternal grandfather's mother. The proband started GH therapy at age 6.5 years when his height was 109 cm (-2.8 SDS) and he experienced catch-up growth as expected in GHD. Puberty started spontaneously at the age of 12.5 years. At age 13, his height was 158.7 cm (-0.2 SDS). Whole-exome sequencing revealed a nonsense variant in the SALL4 gene c.1717C>T (p.Arg573Ter) in the proband, his father, and paternal grandfather.
CONCLUSION
This is the first observation of a patient with a congenital upper limb defect due to a pathogenic SALL4 variant who has isolated GHD with no apparent cerebral or facial midline anomaly and has been successfully treated with growth hormone.
Topics: Child, Preschool; Humans; Male; Duane Retraction Syndrome; Human Growth Hormone; Hypopituitarism; Kidney; Phenotype; Transcription Factors; Upper Extremity; Adult
PubMed: 37611564
DOI: 10.1159/000531996 -
Oman Journal of Ophthalmology 2023Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected...
Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence. Ocular association with achondroplasia include simple microphthalmos, congenital-onset glaucoma with presumed Axenfeld-Rieger anomaly, telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy, fundus albipunctatus, chorioretinal coloboma, macular coloboma, keratoconus, and developmental cataract. A 6-year-old achondroplasia boy with developmental delay had a high axial length (high myopia) in both eyes. This child had a left eye subluxated cataractous lens, while the other eye showed mild lens changes. All achondroplasia patients should be routinely screened in detail for lens and other ophthalmological anomalies so that they can undergo timely intervention and management.
PubMed: 38059098
DOI: 10.4103/ojo.ojo_42_23 -
Cureus Jun 2023The levator palpebrae superioris is the primary muscle responsible for elevation of the eyelid. This muscle is innervated by the third intracranial nerve. Any pathology...
The levator palpebrae superioris is the primary muscle responsible for elevation of the eyelid. This muscle is innervated by the third intracranial nerve. Any pathology affecting the muscle or the supplying nerve can lead to blepharoptosis. In this study, we share our experience of a two-year-old baby boy patient who presented with a rare congenital disorder manifested as blepharoptosis increased with adduction bilaterally with no limitation of ocular muscles action except bilateral underaction of inferior oblique muscles. To our knowledge, this unusual presentation has not been previously reported in the literature. We aim in this report to build more knowledge on such a rare clinical presentation. Based on the findings, this could be a case of congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). CCDDs/CID is a group of conditions that includes blepharoptosis as part of their clinical presentation. This group of conditions includes Duane's retraction syndrome, congenital fibrosis of extraocular muscles, and monocular elevation defect.
PubMed: 37456445
DOI: 10.7759/cureus.40422