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Journal of Binocular Vision and Ocular... 2024To determine the frequency and manifestations of different ocular causes of abnormal head posture (AHP).
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.
Topics: Male; Female; Humans; Aged, 80 and over; Ocular Motility Disorders; Prospective Studies; Head; Nystagmus, Pathologic; Strabismus; Ophthalmoplegia; Duane Retraction Syndrome; Trochlear Nerve Diseases; Posture
PubMed: 37983128
DOI: No ID Found -
Journal of Human Genetics Jan 2024Duane 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...
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.
Topics: Animals; Humans; Duane Retraction Syndrome; Zebrafish; Pedigree; Mutation, Missense; Eye Abnormalities
PubMed: 37853116
DOI: 10.1038/s10038-023-01201-w -
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 -
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 -
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 -
Zhonghua Yi Xue Za Zhi Jul 2023In the present study, clinical manifestations of two Chinese Okihiro syndrome families were analyzed, and genetic detections were performed on the two probands by exome...
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 variants, c.844delC p.(Q282Kfs*8) and c.2210delG p.(G737Vfs*23), have been identified respectively in two probands, and c.2210delG of 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 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 variants. Our study provides accurate prenatal genetic diagnosis for the two families to avoid the birth of affected children.
Topics: Female; Humans; Pregnancy; Deafness; Duane Retraction Syndrome; East Asian People; Frameshift Mutation; Transcription Factors
PubMed: 37438083
DOI: 10.3760/cma.j.cn112137-20221206-02577 -
Journal of AAPOS : the Official... Aug 2023Modified Nishida's procedure (no split, no tenotomy transposition) has been recently described as an effective surgery for monocular elevation deficiency and for...
Modified Nishida's procedure (no split, no tenotomy transposition) has been recently described as an effective surgery for monocular elevation deficiency and for traumatic rupture of the inferior rectus muscle. We report the modified Nishida's procedure combined with medial rectus muscle recession for the treatment of esotropia in unilateral Duane syndrome associated with Goldenhar syndrome. Following the surgery and over a 1-year follow-up period, the patient was orthophoric at distance and near, abduction improved, and the abnormal head position resolved.
Topics: Humans; Esotropia; Duane Retraction Syndrome; Goldenhar Syndrome; Vision, Binocular; Retrospective Studies; Ophthalmologic Surgical Procedures; Oculomotor Muscles
PubMed: 37247805
DOI: 10.1016/j.jaapos.2023.04.008 -
Journal of Binocular Vision and Ocular... Jul 2023Duane retraction syndrome (DRS) is a complex congenital cranial dysinnervation disorder. The choice of surgical procedure in esotropic-DRS depends upon several factors...
Duane retraction syndrome (DRS) is a complex congenital cranial dysinnervation disorder. The choice of surgical procedure in esotropic-DRS depends upon several factors that include: the amount of esotropia in the primary position, the presence and severity of palpebral fissure narrowing, globe retraction, presence of medial rectus muscle (MR) contracture, the likelihood of improving abduction, age of the patient, and the presence of binocularity and stereopsis. In the presence of MR contracture, MR recession is performed either alone (unilaterally or bilaterally) or in conjunction with Y splitting plus recession of the lateral rectus muscle (LR) for reducing globe retraction. MR recession, with or without adjustable sutures, may be simultaneously combined with partial thickness vertical rectus muscle transposition (VRT) or with superior rectus muscle transposition (SRT). We describe a novel combination of surgical procedures in the management of esotropic-DRS in two patients. In our first patient, following an initial MR recession combined with LR disinsertion and periosteal fixation (LRDAPF), a modified Nishida procedure was performed. In our second patient following a prior simultaneous MR recession and LR Y splitting with recession, we combined periosteal fixation of the LR with a modified Nishida procedure of the vertical rectus muscles.
Topics: Humans; Duane Retraction Syndrome; Ophthalmologic Surgical Procedures; Oculomotor Muscles; Esotropia; Contracture
PubMed: 37078821
DOI: No ID Found