ABSTRACT
Resumo A síndrome de Pierre Robin (PRS) consiste em uma tríade de anomalias caracterizada por micrognatia, glossoptose e fissura de palato, comumente associada com outras síndromes e ocasionalmente com alterações oculares. Na Síndrome de Duane (DRS), há uma falha na inervação do reto lateral pelo VI nervo, com inervação anômala do reto lateral por fibras do III nervo. Ainda que a PRS já tenha sido associada com mais de 50 outras síndromes, não existe na literatura relato de casos de associação com a DRS familiar. Dessa forma, esse trabalho tem por objetivo relatar um caso dessa associação em um paciente de 29 anos com recorrência das síndromes na família.
Abstract The Pierre Robin Syndrome (PRS) consists of a triad of anomalies characterized by micrognathia, glossoptosis and fissure of the palate, usually associated with other syndromes e occasionally associated with ocular variations. In Duane Retraction Syndrome (DRS), there is a failure in the lateral rectus innervation by the VI cranial nerve, with anomalous innervation of the lateral rectus by fibers of the III nerve. Even though PRS has already been associated with more than 50 other syndromes, there is not any report in literature of association with familial DRS. Thus, this work aims to report a case of this association in a 29 years old patient with recurrence of the syndromes in the family.
Subject(s)
Humans , Male , Adult , Abducens Nerve/abnormalities , Pierre Robin Syndrome/diagnosis , Pierre Robin Syndrome/genetics , Eye Diseases, Hereditary/diagnosis , Duane Retraction Syndrome/diagnosisABSTRACT
El síndrome de Duane es una alteración de la motilidad ocular caracterizada por la retracción del globo ocular y el estrechamiento de la hendidura palpebral con la aducción, asociada a la restricción de la abducción, aducción o ambas. Han surgido muchas teorías sobre la etiología del síndrome de Duane, pero la mayoría de los autores coinciden en que es consecuencia de una alteración congénita del VI par craneal, con una inervación aberrante del recto lateral por el III par craneal. Esta es la causa más frecuente de inervación aberrante ocular congénita. Es más frecuente en el ojo izquierdo. El síndrome de Duane tipo I es el más frecuente, y es menos frecuente el tipo II. Presentamos dos pacientes masculinos de 11 y 37 años de edad respectivamente, con diagnóstico de síndrome de Duane tipo II, con exotropía de 15 grados por Hirchsberg en el ojo izquierdo y en el ojo derecho respectivamente; tortícolis mentón a la derecha, limitación de la aducción con estrechamiento de la hendiduda palpebral y marcado upshoot en relación con el ojo afecto. Se decide realizar reseción del recto lateral 8,0 mm del ojo afectado más Y split, para mejorar el marcado upshoot. Los pacientes después de la cirugía estaban en ortotropía sin upshoot, ni tortícolis(AU)
Duane's syndrome is an eye motility disorder characterized by globe retraction and palpebral fissure narrowing with adduction, associated to abduction restriction, adduction restriction or both. Many theories have been put forth about the etiology of Duane's syndrome, but most authors agree that it is the consequence of a congenital alteration of the sixth cranial pair with aberrant innervation of the lateral rectus by the third cranial pair. This is the most common cause of congenital aberrant ocular innervation, and is more frequent in the left eye. Duane's syndrome type I is the most common and type II is the least common. A presentation is provided of two male patients aged 11 and 37 years with a diagnosis of Duane's syndrome type II with 15 degree exotropia on Hirchsberg's scale in the left and right eye, respectively, chin torticollis to the right, adduction limitation with palpebral fissure narrowing, and marked upshoot in relation to the affected eye. It is decided to perform resection of the lateral rectus 8.0 mm from the affected eye plus Y split to improve the marked upshoot. After surgery the patients were on orthotropics without upshoot or torticollis(AU)
Subject(s)
Humans , Male , Child , Adult , Duane Retraction Syndrome/diagnosis , Duane Retraction Syndrome/etiology , Exotropia/surgerySubject(s)
Humans , Female , Magnetic Resonance Imaging , Duane Retraction Syndrome/diagnosis , Problem SolvingABSTRACT
We report a case of pseudo-Duane's retraction syndrome with entrapment of the medial rectus muscle in an old medial orbital wall fracture presenting identical clinical symptoms as Duane's retraction syndrome. A 15-year-old boy presented with persistent limited right eye movement since a young age. Examination showed marked limited abduction, mildly limited adduction, and globe retraction accompanied by narrowing of the palpebral fissure during attempted adduction in the right eye. He showed a right esotropia of 16 prism diopters and his head turned slightly to the right. A slight enophthalmos was noted in his right eye. A computed tomography scan demonstrated entrapment of the medial rectus muscle and surrounding tissues in an old medial orbital wall fracture. A forced duction test revealed a marked restriction of abduction in the right eye. A 5 mm recession of the right medial rectus muscle was performed. Postoperatively, the patient's head turn and esotropia in the primary position were successfully corrected, but there was still some limitations to his ocular movement. The importance of several tests such as the forced duction test and an imaging study should be emphasized in making a diagnosis for limitation of eye movement.
Subject(s)
Adolescent , Humans , Male , Diagnosis, Differential , Duane Retraction Syndrome/diagnosis , Eye Movements/physiology , Follow-Up Studies , Oculomotor Muscles/physiopathology , Ophthalmologic Surgical Procedures/methods , Orbital Fractures/complications , Tomography, X-Ray ComputedABSTRACT
Duane's retraction syndrome (DRS) includes changes in palpebral fissure width along with restriction of ocular motility. Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, polydactyly and renal abnormalities. We report a case of rare association of DRS with BBS in a seven-year-old child. The ocular motility examination revealed left DRS with esotropia. Fundus examination revealed findings characteristic of an atypical retinitis pigmentosa. The electro-retinogram waveforms were extinguished both for rods and cones. He was diagnosed as a case of BBS on the basis of the ophthalmological findings plus association with the systemic features of obesity, polydactyly, hypogonadism, mental retardation and renal abnormalities. This case gives further evidence of the fact that BBS may be associated with abnormalities of eye movements.
Subject(s)
Bardet-Biedl Syndrome/complications , Child , Diagnosis, Differential , Duane Retraction Syndrome/diagnosis , Electroretinography , Eye Movements , Humans , Male , Ophthalmoscopy , Visual FieldsABSTRACT
Se presenta el caso clínico de un síndrome de Duane Tipo II de acuerdo a la clasificación de Huber. Se discuten las características clínicas de acuerdo con otras clasificaciones.
Subject(s)
Humans , Female , Duane Retraction Syndrome/diagnosis , Enophthalmos , ExotropiaABSTRACT
Este estudo retrospectivo descreve os achados clínicos em 97 pacientes portadores de Síndrome de Duane do Departamento de Oftalmologia da Santa Casa de Säo Paulo e Clínica Particular (Dr. Carlos Souza Dias). Encontramos 90 casos (92.8 por cento) unilaterais e 7 (7.2 por cento) bilaterais, os quais foram avaliados separadamente. Tipo I, sexo feminino e olho esquerdo foram mais freqüentes. As características clínicas estudadas foram erro refracional, movimentos verticais anômalos , torcicolo, ambliopia e desvio em posiçäo primária do olhar.
Subject(s)
Humans , Duane Retraction Syndrome/diagnosis , Duane Retraction Syndrome/genetics , Duane Retraction Syndrome/pathologyABSTRACT
As principais formas clínicas de paralisia do VI par säo descritas e o diagnóstico diferencial com a Síndrome de Duane e com a Síndrome de Mönius é enfatizado. O autor descreve as técnicas cirúrgicas indicadas para cada caso