RESUMO
Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.
Assuntos
Defeitos Congênitos da Glicosilação , Síndrome da Retração Ocular , Humanos , Feminino , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/diagnóstico , Defeitos Congênitos da Glicosilação/complicações , Adolescente , Síndrome da Retração Ocular/genética , Síndrome da Retração Ocular/diagnóstico , Manosiltransferases/genéticaRESUMO
PURPOSE: 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. METHODS: 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. RESULTS: 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%. CONCLUSION: 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.
Assuntos
Síndrome da Retração Ocular , Fibrose , Imageamento por Ressonância Magnética , Músculos Oculomotores , Humanos , Imageamento por Ressonância Magnética/métodos , Músculos Oculomotores/diagnóstico por imagem , Músculos Oculomotores/patologia , Síndrome da Retração Ocular/diagnóstico , Masculino , Feminino , Fibrose/diagnóstico , Criança , Adolescente , Pré-Escolar , Adulto Jovem , Adulto , Oftalmoplegia/diagnóstico , Estudos de Casos e Controles , Nervos Cranianos/anormalidades , Doenças dos Nervos Cranianos/diagnóstico , Oftalmopatias Hereditárias/diagnóstico , Estudos Retrospectivos , Transtornos Congênitos de Denervação CranianaRESUMO
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.
Assuntos
Síndrome da Retração Ocular , Mutação , Linhagem , Adulto , Criança , Feminino , Humanos , Masculino , Povo Asiático/genética , Quimerina 1/genética , China , Análise Mutacional de DNA , Síndrome da Retração Ocular/genética , Síndrome da Retração Ocular/fisiopatologia , População do Leste Asiático , Exotropia/genética , Exotropia/fisiopatologia , Imageamento por Ressonância MagnéticaRESUMO
Duane retraction syndrome (DRS) is a rare congenital nonprogressive restrictive strabismus. The absence/hypoplasia of the abducens nerve and the aberrant innervation of the lateral rectus muscle by the oculomotor nerve have been hypothesized as causes of DRS, although the phenomenon of globe retraction can also occur in the setting of mechanical factors, such as congenital abnormal orbital structures or orbital trauma. We present the cases of 2 DRS patients with absent abducens nerve and abnormal muscular bands connecting the superior rectus and inferior rectus muscles on the temporal side of the optic nerve.
Assuntos
Síndrome da Retração Ocular , Traumatismos Oculares , Estrabismo , Humanos , Síndrome da Retração Ocular/complicações , Síndrome da Retração Ocular/diagnóstico , Músculos Oculomotores/inervação , Nervo OculomotorRESUMO
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. [J Pediatr Ophthalmol Strabismus. 2024;61(1):e7-e10.].
Assuntos
Síndrome da Retração Ocular , Estrabismo , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome da Retração Ocular/cirurgia , Estrabismo/complicações , Pálpebras , Doença IatrogênicaRESUMO
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.
Assuntos
Ambliopia , Síndrome da Retração Ocular , Acuidade Visual , Humanos , Ambliopia/fisiopatologia , Ambliopia/epidemiologia , Masculino , Feminino , Estudos Retrospectivos , Adulto , Acuidade Visual/fisiologia , Criança , Pré-Escolar , Pessoa de Meia-Idade , Adulto Jovem , Adolescente , Idoso , Irã (Geográfico)/epidemiologia , Síndrome da Retração Ocular/fisiopatologia , Síndrome da Retração Ocular/epidemiologia , Síndrome da Retração Ocular/complicações , Prevalência , Refração Ocular/fisiologia , Erros de Refração/fisiopatologia , Erros de Refração/epidemiologia , Anisometropia/fisiopatologia , Anisometropia/epidemiologiaRESUMO
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.
Assuntos
Síndrome da Retração Ocular , Humanos , Síndrome da Retração Ocular/diagnóstico , Síndrome da Retração Ocular/patologia , Nervo Abducente/diagnóstico por imagem , Músculos Oculomotores/diagnóstico por imagem , Músculos Oculomotores/inervação , Órbita/patologia , Imageamento por Ressonância Magnética/métodosRESUMO
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.
Assuntos
Síndrome da Retração Ocular , Hormônio do Crescimento Humano , Hipopituitarismo , Pré-Escolar , Humanos , Masculino , Síndrome da Retração Ocular/genética , Síndrome da Retração Ocular/patologia , Hipopituitarismo/genética , Rim/patologia , Fenótipo , Fatores de Transcrição/genética , Extremidade Superior/patologia , AdultoRESUMO
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.
Assuntos
Síndrome da Retração Ocular , Anormalidades do Olho , Animais , Humanos , Síndrome da Retração Ocular/genética , Peixe-Zebra/genética , Linhagem , Mutação de Sentido IncorretoRESUMO
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.
Assuntos
Síndrome da Retração Ocular , Nistagmo Patológico , Transtornos da Motilidade Ocular , Oftalmoplegia , Estrabismo , Doenças do Nervo Troclear , Masculino , Feminino , Humanos , Idoso de 80 Anos ou mais , Estudos Prospectivos , Cabeça , Estrabismo/etiologia , Postura/fisiologiaRESUMO
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.
Assuntos
Surdez , Síndrome da Retração Ocular , Feminino , Humanos , Gravidez , População do Leste Asiático , Mutação da Fase de Leitura , Fatores de Transcrição/genéticaRESUMO
El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético. En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome
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.
Assuntos
Humanos , Feminino , Adolescente , Anormalidades Múltiplas/diagnóstico , Síndrome da Retração Ocular , Surdez/genética , Síndrome de Klippel-FeilRESUMO
Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder that is characterized by paradoxical lateral rectus muscle innervation of the affected eye by axons meant to innervate the ipsilateral medial rectus muscle, with resultant varying degrees of co-contraction. It is characterized by severe abduction deficiency, variable limitation of adduction, globe retraction with narrowing of the palpebral fissure, and oblique elevation or depression on adduction. A total of 16 patients with unilateral DRS were identified. The mean age was 13 ± 8 years (range: 6 to 28 years). There were 5 males and 11 females. The cohort included 8 patients with DRS type I, 3 patients with DRS type II, 4 patients with DRS type III, and 1 patient with synergistic divergence (DRS type IV). The mean width of the palpebral fissure in primary gaze was 9.95 ± 0.25 mm, increased in abduction to 11.11 ± 1.16 mm, and changed on adduction to 10.03 ± 1.19 mm. The mean reduction in the size of the palpebral fissure on adduction was 11.7 ± 10.2% (range: 0 to 30%). The difference in the palpebral fissure width between adduction and abduction was statistically significant (P = .0018). Of the 16 patients, 8 (50%) showed narrowing of the palpebral fissure of the contralateral eye on adduction compared to abduction of more than 10%. In this case series of unilateral Duane retraction syndrome, there was a common association between widening of the palpebral fissure of the unaffected eye and adduction of the eyes with DRS in DRS types II, III, and IV and DRS type I with upshoot or downshoot. [J Pediatr Ophthalmol Strabismus. 2023;60(3):e22-e25.].
Assuntos
Síndrome da Retração Ocular , Estrabismo , Masculino , Feminino , Humanos , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Síndrome da Retração Ocular/diagnóstico , Músculos Oculomotores , PálpebrasRESUMO
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.
Assuntos
Síndrome da Retração Ocular , Esotropia , Síndrome de Goldenhar , Humanos , Esotropia/cirurgia , Esotropia/complicações , Síndrome da Retração Ocular/complicações , Síndrome da Retração Ocular/cirurgia , Síndrome de Goldenhar/complicações , Síndrome de Goldenhar/cirurgia , Visão Binocular/fisiologia , Estudos Retrospectivos , Procedimentos Cirúrgicos Oftalmológicos/métodos , Músculos Oculomotores/cirurgiaRESUMO
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.
Assuntos
Contratura , Síndrome da Retração Ocular , Esotropia , Humanos , Síndrome da Retração Ocular/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Músculos Oculomotores/cirurgia , Esotropia/cirurgia , Contratura/cirurgiaRESUMO
Inverse globe retraction syndrome is a rare ocular motility disorder characterized by limited abduction, with globe retraction and up- or downshoots on attempted abduction, differentiating it from globe retraction due to Duane retraction syndrome, seen on attempted adduction. It can be congenital or acquired. We report the case of a 3-year-old girl who presented with classical features of inverse globe retraction syndrome secondary to an underlying orbital tumor involving the medial rectus muscle. Incisional biopsy confirmed the diagnosis of a leiomyoma. At 10 months' follow-up, vision, ocular alignment, and ocular motility had improved.
Assuntos
Síndrome da Retração Ocular , Leiomioma , Neoplasias Orbitárias , Feminino , Humanos , Pré-Escolar , Síndrome da Retração Ocular/diagnóstico , Doenças Raras , Neoplasias Orbitárias/complicações , Neoplasias Orbitárias/diagnóstico , Neoplasias Orbitárias/cirurgia , Movimentos Oculares , Músculos Oculomotores/cirurgia , Leiomioma/complicações , Leiomioma/diagnóstico , Leiomioma/cirurgiaRESUMO
BACKGROUND: SALL4, a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development. SALL4 mutations cause extremely variable conditions including Duane-radial ray (DRR), Okihiro, Holt-oram, Acro-renal ocular and IVIC syndromes, all with autosomal dominant inheritance pattern. However, all these syndromes with different terminologies are actually the same entity termed SALL4 related disorders. CASE PRESENTATION: Herein, we examine an Iranian patient suspected to DRR syndrome which has not been previously described in the population. Whole-exome sequencing (WES) was performed to examine pathogenic genes in the proband. Subsequently, Sanger sequencing was used to confirm the mutation found. To elucidate the effects of the identified mutation, clinical data of patient was collected. Morever, the possible impact of the mutation found on the corresponding protein was evaluated using bioinformatics tools. WES identifed a novel de novo heterozygous nonsense mutation in exon 2 of SALL4 gene (c.712 C > T:p.Q238X). Subsequently, segregation and phenotype-genotype correlation analysis as well as in-silico approaches confirmed the autosomal dominance inheritance and disease-causing nature of the identified mutation. In addition, studied patient had features not described previously, including kyphoscoliosis, dimple presacral sinus, barrel chest and artric disc (C6-C7). These manifestations could be additional characteristics of the growing phenotypic spectrum of SALL4 related disorders. CONCLUSION: Our findings could extend the pathogenic mutations and phenotypic spectrum of SALL4 related disorders. Such reports can also aid to conduct genetic counseling, prenatal diagnosis and clinical management for individuals at high risk of SALL4 related disorders.
Assuntos
Síndrome da Retração Ocular , Humanos , Síndrome da Retração Ocular/genética , Síndrome da Retração Ocular/patologia , Códon sem Sentido , Irã (Geográfico) , Fatores de Transcrição/genética , Mutação , LinhagemRESUMO
Objectives: Duane syndrome (DS) is typically characterized by abduction and/or adduction deficiency accompanied by eyelid and ocular motility disturbances. Maldevelopment or absence of the sixth nerve has been shown to be the causative factor. The aim of the present study was to investigate static and dynamic pupillary characteristics in patients with DS and compare the results with those of healthy eyes. Materials and Methods: Patients with unilateral isolated DS and no history of ocular surgery were enrolled in the study. Healthy subjects with a best corrected visual acuity (BCVA) of 1.0 or higher were assigned to the control group. All subjects underwent complete ophthalmological examination and pupillometry measurements (MonPack One, Vision Monitor System, Metrovision, Perenchies, France) including static and dynamic pupil evaluation. Results: A total of 74 patients (22 with DS and 52 healthy subjects) were included in the study. The mean age of the DS patients and healthy subjects was 11.05±5.19 and 12.54±4.05 years, respectively (p=0.188). There was no difference in sex distribution (p=0.502). Mean BCVA differed significantly between eyes with DS and healthy eyes, and between healthy eyes and the fellow eyes of DS patients (p<0.05). No significant difference was found in any static or dynamic pupillometry parameters (p>0.05 for all). Conclusion: In the light of the results of the present study, the pupil seems to be not involved in DS. Larger studies including more patients with different types of DS in different age groups or comprising patients with non-isolated DS may reveal different findings.
Assuntos
Síndrome da Retração Ocular , Humanos , Pré-Escolar , Criança , Adolescente , Pupila , Pálpebras , Movimentos Oculares , Voluntários SaudáveisRESUMO
Spalt-like 4 (SALL4) maintains vertebrate embryonic stem cell identity and is required for the development of multiple organs, including limbs. Mutations in SALL4 are associated with Okihiro syndrome, and SALL4 is also a known target of thalidomide. SALL4 protein has a distinct preference for AT-rich sequences, recognised by a pair of zinc fingers at the C-terminus. However, unlike many characterised zinc finger proteins, SALL4 shows flexible recognition with many different combinations of AT-rich sequences being targeted. SALL4 interacts with the NuRD corepressor complex which potentially mediates repression of AT-rich genes. We present a crystal structure of SALL4 C-terminal zinc fingers with an AT-rich DNA sequence, which shows that SALL4 uses small hydrophobic and polar side chains to provide flexible recognition in the major groove. Missense mutations reported in patients that lie within the C-terminal zinc fingers reduced overall binding to DNA but not the preference for AT-rich sequences. Furthermore, these mutations altered association of SALL4 with AT-rich genomic sites, providing evidence that these mutations are likely pathogenic.
Assuntos
Síndrome da Retração Ocular , Fatores de Transcrição , Humanos , Síndrome da Retração Ocular/genética , Síndrome da Retração Ocular/metabolismo , Síndrome da Retração Ocular/patologia , Mutação , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Dedos de ZincoRESUMO
PURPOSE: To evaluate the role of botulinum toxin A in the treatment of adults with Duane retraction syndrome and its impact on quality of life. METHODS: A total of 25 adults with unilateral Duane retraction syndrome were selected for this interventional case series. Botulinum toxin was injected in the appropriate horizontal recti. The parameters assessed were ocular deviation (âµ), overshoots, and abnormal head posture. Patients were followed up at 1 day, 10 days, and 3 months after the injection. The outcome was categorized on the basis of deviation/abnormal head posture/overshoots as: (1) significant improvement (< 8 prism diopters [PD]/< 5 degrees/≤ grade 1); (2) partial improvement (8 to 20 PD/5 to 15 degrees/≤ grade 2); and (3) no improvement (> 20 PD/> 15 degrees/≥ grade 3). Patients with partial/significant improvement were considered to have a favorable outcome. The impact on quality of life was assessed using the Adult Strabismus-20 Questionnaire scores 10 days after injection. RESULTS: There was a significant reduction in ocular deviation in esotropic and exotropic Duane retraction syndrome at 10 days (P = .001) and 3 months (P = .04) after botulinum toxin injection. The abnormal head posture improved from 11.58 ± 7.43 to 7.86 ± 6.25 degrees at 10 days. Botulinum toxin had a positive impact on the Adult Strabismus-20 Questionnaire scores, which significantly improved (P < .05) at 10 days. A favorable outcome was noted in 21 patients at 10 days but only 4 patients at 3 months. Three patients developed ptosis and 1 patient with orthotropic Duane retraction syndrome developed transient exotropia. CONCLUSIONS: In adults with Duane retraction syndrome, botulinum toxin can have a useful diagnostic role by providing insight to patients and setting realistic expectations. It can identify patients likely to benefit from further treatment and also has a positive impact on quality of life. [J Pediatr Ophthalmol Strabismus. 2023;60(1):46-51.].