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Molecular Medicine Reports Apr 2022Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations...
Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations of a patient with Okihiro syndrome and perform genetic testing on the proband and his family to determine the biological pathogenesis. Clinical data were collected from the proband and his family and genomic DNA was extracted from peripheral blood. Whole exome sequencing was performed by high‑throughput sequencing and mutation sites of the proband and his parents were validated by Sanger sequencing. The proband was diagnosed with Okihiro syndrome, which is characterized by bone abnormality in the arms and hands (radial ray malformation, absence of thumbs) and sensorineural hearing loss. A pathogenic heterozygous c.3060delG variant was identified in exon 4 of spalt‑like transcription factor 4 () gene in the proband. This is a frameshift mutation that changes increases the length of SALL4 protein from 1,053 to 1,076 amino acids. The variant was classed as a mutation because the parents of the proband showed no variation at this site. This variant is not included in the ClinVar database and, to the best of our knowledge, has not previously been reported. The heterozygous c.3060delG variant was the molecular pathological cause of Okihiro syndrome in the present study and expanded the database of known variants.
Topics: China; Duane Retraction Syndrome; Heterozygote; Humans; Mutation; Pedigree; Transcription Factors
PubMed: 35179219
DOI: 10.3892/mmr.2022.12647 -
Journal of Current Ophthalmology 2021To provide a comprehensive review on different characteristics of abnormal head postures (AHPs) due to different ocular causes, its measurement, and its effect on facial... (Review)
Review
PURPOSE
To provide a comprehensive review on different characteristics of abnormal head postures (AHPs) due to different ocular causes, its measurement, and its effect on facial appearance.
METHODS
In this review article, PubMed, Scopus, and Google Scholar search engines were searched for the scientific articles and books published between 1975 and September 2020 based on the keywords of this article. The selected articles were collected, summarized, classified, evaluated, and finally concluded.
RESULTS
AHP can be caused by various ocular or nonocular diseases. The prevalence of ocular causes of AHP was reported to be 18%-25%. 1.1% of patients presenting to ophthalmology clinics has AHP. The first step in evaluating a patient with AHP is a correct differential diagnosis between nonocular and ocular sources by performing comprehensive eye examinations and ruling out other causes of orthopedic and neurological AHP. Ocular AHP occurs for a variety of reasons, the most important of which include nystagmus, superior oblique palsy, and Duane's retraction syndrome. AHP may be an essential clinical sign for an underlying disease, which can only be appropriately treated by the accurate determination of the cause. Long-standing AHP may lead to facial asymmetry and secondary muscular and skeletal changes.
CONCLUSION
In conclusion, a proper differential diagnosis between nonocular and ocular causes, knowledge of the different forms of AHP and their measurement methods, accurate diagnosis of the cause, and proper and timely treatment of ocular AHP can prevent facial asymmetry and secondary muscular and skeletal changes in the patients.
PubMed: 35128182
DOI: 10.4103/joco.joco_114_20 -
Clinical Ophthalmology (Auckland, N.Z.) 2022Abduction limitation in esotropic Duane retraction syndrome (DRS), esotropic Mobius syndrome, and sixth nerve palsy is one of the difficult-to-manage problems in... (Review)
Review
Abduction limitation in esotropic Duane retraction syndrome (DRS), esotropic Mobius syndrome, and sixth nerve palsy is one of the difficult-to-manage problems in strabismus surgery. The procedure of superior rectus transposition (SRT) was introduced by Johnston et al. In this procedure, the superior rectus (SR) muscle is disinserted and sutured adjacent to the insertion of lateral rectus (LR) muscle. The purpose of this review is to explore literature about efficacy and safety of SRT and its usage in strabismus surgery.
PubMed: 36444206
DOI: 10.2147/OPTH.S359313 -
Oman Journal of Ophthalmology 2022
PubMed: 35937726
DOI: 10.4103/ojo.ojo_141_22 -
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 -
Archivos Argentinos de Pediatria Jun 2023Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or...
Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.
Topics: Humans; Klippel-Feil Syndrome; Duane Retraction Syndrome; Deafness; Abnormalities, Multiple
PubMed: 36413195
DOI: 10.5546/aap.2022-02624.eng