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a A 2-year-old female with right preauricular skin tag, right mandibular hypoplasia causing facial asymmetry, and right infero-temporal limbal dermoid. b and c Views of right and left preauricular skin tags. d Left infero-temporal fornix showing a subconjunctival lipodermoid
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Purpose
To study the ophthalmic clinical profile and the management outcomes of children having Goldenhar syndrome (GS).
Methods
Retrospective review of included children fulfilling the diagnostic criteria of GS was performed. The demography, ophthalmic features, systemic anomalies, and treatment outcomes were recorded manually from patient files....
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Purpose
To report a case of lacrimal system agenesis in a patient with Goldenhar syndrome.
Observations
A one-month-old female preterm twin with Goldenhar syndrome presented with left upper eyelid coloboma, left central corneal ulcer and inferotemporal epibulbar dermoid. The corneal ulcer was treated and healed to a mild stromal scar. Examination...
Citations
... 8-10 A triad of auricular, ophthalmic, and facial features was classified by Dr Maurice Goldenhar in 1952 as the Goldenhar syndrome (Figure 1a-c). 10,11 Vertebral anomalies frequently found in this syndrome were described by Gorlin in 1963, and this syndrome came to be known as Goldenhar-Gorlin syndrome and later as OAVS by Cohen in 1989. 11,12 Ocular and adnexal anomalies in Goldenhar syndrome have been classified into four different categories by Rooijers et al. 8,9 Type 1 ocular anomalies consisted of anatomical ocular and adnexal anomalies that do not tend to impair vision and include the lacrimal drainage anomalies in general. ...
... 10,11 Vertebral anomalies frequently found in this syndrome were described by Gorlin in 1963, and this syndrome came to be known as Goldenhar-Gorlin syndrome and later as OAVS by Cohen in 1989. 11,12 Ocular and adnexal anomalies in Goldenhar syndrome have been classified into four different categories by Rooijers et al. 8,9 Type 1 ocular anomalies consisted of anatomical ocular and adnexal anomalies that do not tend to impair vision and include the lacrimal drainage anomalies in general. 8,9 In the systematic review by the same group, the incidence of lacrimal anomalies, specifically dacryostenosis, nasolacrimal duct obstruction, or hypoplasia in 7 records (out of 25) ranged from 4.8 to 14.3% (Table 4). ...
Objective: To describe in detail the lacrimal drainage system anomalies and review of literature in
patients with Goldenhar syndrome, Rubinstein-Taybi syndrome (RTS), and Ectodermal-Ectrodactyly-
Clefting syndrome (EECS), their management and outcomes.
Methods: A retrospective chart review from January 2011–June 2023 of all cases presenting to the
Dacryology clinic with Goldenhar syndrome, RTS, and EECS was obtained. Data collected included
demographics, laterality, clinical presentations, proximal and distal lacrimal drainage anomalies, associated
systemic features, management, and outcomes.
Results: Eight children with Goldenhar syndrome (n = 13), three with RTS (n = 5) and three with EECS
(n = 5) presented with lacrimal drainage system involvement. Cases with Goldenhar syndrome showed
male predominance (5/8), and the mean age at presentation was 14.75 months. Four cases had simple
CNLDO, seven cases with complex CNLDO (4 - buried probe and 3 - atonic sacs) and a single neonate
presented with bilateral dacryocele. Patients with RTS presented with mean age of 36.33 months with
male predominance. Probing under endoscopic guidance explored the anatomy thoroughly and those
with altered nasal anatomy increased the probability of complex CNLDO. Those with EECS (n = 5)
presented with a greater involvement of proximal lacrimal drainage system compared with Goldenhar
syndrome and RTS, including anomalies like punctal agenesis, incomplete punctal canalization (IPC),
ectopic puncta, canalicular stenosis, and complex CNLDO.
Conclusions: A step-wise approach to assessing the proximal and lacrimal drainage system in those
affected with craniofacial malformations and addressing them can result in satisfactory outcomes for the
majority of patients.
... 1 También se ha reportado la presencia de colobomas, blefaroptosis, anoftalmia, o dermoides epibulbares ya sean uni o bilaterales lo cual genera restricción mecánica del globo ocular. 7,22 Los colobomas son defectos en el espesor de piel del párpado, con bordes libres y tiene una presentación entre el 6-24% de los pacientes con OAVS. 22 ...
... Además de sinostosis, hemivertebras, cifoescoliosis vertebral fusionada y costillas faltantes. 9,22,25 Las anomalías cervicales son de primordial relevancia en aquellos pacientes sometidos a cirugía, por las complicaciones al momento de realizar laringoscopia directa y para intubación endotraqueal. 26 Por su parte, la escoliosis suele ser progresiva por lo que requiere de tratamiento oportuno. ...
... Generalmente el tratamiento de los colobomas parpebrales y de los lipodermoides subconjuntivales es mediante manejo quirúrgico para su completa remoción, con lo que se mejora en gran medida la agudeza visual de estos pacientes. 22,43,45 • Psicología. Los niños con este tipo de anomalías tienen mayor riesgo a padecer problemas psicosociales, por lo cual necesaria la intervención de psicoterapeutas y/o de trabajadores sociales, con la finalidad de brindar apoyo y orientación tanto a los pacientes como a sus familiares. ...
Introducción. El espectro oculo-auriculo-vertebral (OAVS, por sus siglas en inglés) también conocido como Síndrome de Goldenhar, es una condición congénita poco frecuente en la que se presentan alteraciones que deben ser tratadas por el odontólogo con un enfoque multidisciplinario. Objetivo. Presentar el estado del arte del conocimiento sobre las principales manifestaciones bucales y el abordaje estomatológico en pacientes pediátricos con espectro oculo-aurículo-vertebral. Desarrollo. El OAVS se caracteriza por alteraciones en las estructuras que se originan del primer y segundo arcos branquiales. Las principales alteraciones bucodentales que se presentan en el OAVS son (i) la hipoplasia mandibular, (ii) agenesia de la rama y cóndilo, cóndilo bifido (iii) desfase de la salivación debido a una aplasia de las glándulas salivales, (iv) defectos en la capacidad de deglución, (v) alteraciones del habla, (vi) taurodontismo, (vii) macrostomia. En el caso de los pacientes con presencia de cóndilo bífido se observa una limitación para la apertura bucal, lo cual genera una deficiente higiene bucal que desencadena caries y gingivitis. Por tal motivo, el odontólogo debe tener el conocimiento de dicho síndrome para proporcional un tratamiento integral con un enfoque multidisciplinario. Conclusión. El papel que juega la estomatología dentro del tratamiento multidisciplinario de los pacientes con OAVS es fundamenta, para que el diagnóstico preciso y oportuno permita brindar un tratamiento integral y multidisciplinario. Es importante la realizar un tratamiento individualizado en conjunto con un equipo multidisciplinario, donde se destaque la relevancia del papel del estomatólogo pediatra.
Background
Ocular surface squamous neoplasia (OSSN) is a heterogeneous group of proliferative squamous lesions on the ocular surface with varying biologic behaviours. This study aims to report the clinical profile and pathological characteristics of cases of OSSN seen at a tertiary referral centre in North West Nigeria.
Methods
A retrospective review of all cases of OSSN diagnosed over a 10-year period was done.
Results
OSSN accounted for 68 out of 91 ocular surface lesions affecting twice as many males as females and a peak incidence in the 30–39 years age group. They frequently presented as higher-grade and higher-stage lesions with invasive squamous cell carcinoma being the most frequently diagnosed OSSN. They also frequently showed an association with HIV infection and a relatively long duration of symptoms before presentation.
Conclusion
OSSN occurs in a relatively young age group in our environment. Certain clinical and epidemiological features appear to predict the occurrence of higher-grade lesions, and this may help in the clinical prediction of likely pathologic grade and/or biologic behaviour of these lesions.
Purpose:
To evaluate the presenting complaints, surgical management, surgical outcomes, complications, and postoperative visual acuity following limbal dermoid excision.
Design:
Retrospective cohort study.
Methods:
Medical records of patients with limbal dermoid presenting between January 2012 and December 2020 were retrieved to extract data regarding demographics, presenting profiles including the best-corrected visual acuity (BCVA), symptoms, anterior segment examination, and refraction. The outcomes included cosmesis, complications, graft transparency, and BCVA at the last follow-up.
Results:
Fifty-one eyes from 50 patients (27 males) were evaluated. The median age at the time of surgery was 11.5 years (interquartile range, IQR: 0.0-45.7). The median follow-up time was 5 years (IQR: 4-6). Goldenhar syndrome was noted in 5 patients (10%). The indications for surgery were cosmetic concerns (n = 20, 39%), anisometropia (n = 3, 6%), decreased vision (n = 4, 8%), and growth or Dellen formation (n = 2, 4%). Forty-eight were operated upon, opting for simple excision (n = 12, 23.5%), amniotic membrane transplantation (n = 16, 31.4%), lamellar keratoplasty (n = 15, 29.4%), and penetrating keratoplasty (n = 5, 9.8%). The most common complications were corneal scarring (n = 19, 37.2%), corneal vascularization (n = 2, 3.9%), and infection (n = 1, 2%). Astigmatism > 1 D was observed in 34 (66.7%) eyes after dermoid management (p < 0.001). There were no complications in 14 eyes (27%), BCVA was > 20/60 in 43 eyes (84.3%), and only two eyes had BCVA < 20/400.
Conclusion:
Surgical management of limbal dermoids offers promising functional and anatomic outcomes. However, postoperative astigmatism may require further follow-up and management.
Aim: This article provides a review of a decade of clinical research studies on clinical features, medical and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinical research.
Method: A systematic search of literature was conducted in Embase and Pubmed/Medline Ovid. All publications from 2010 until 2020 that included at least 10 individuals with CFM were considered relevant for this study.
Results: A total of 91 articles were included. In the past decade, many new studies on CFM have been published providing more insight on the diagnosis and management of patients with CFM. This review encompasses findings on the clinical difficulties patients with CFM encounter, including the craniofacial and extracraniofacial characteristics of patients with CFM and its related clinical consequences on breathing, feeding, speech, and hearing.
Conclusions: A considerable number of large multicentre studies have been published in recent years, providing new insights in the clinical consequences of CFM. The phenotypic variety between patients with CFM makes patient specific treatment tailored to individual needs essential. Research and development of clinical care standards might be challenging due to the heterogeneity of CFM. Future research on clinical and patient reported outcomes can help identify optimal treatment strategies. Cooperation between craniofacial centers, using uniform registration and outcome measurement tools, could enhance research and future care for these patients.
Goldenhar syndrome is a rare genetic disorder that includes various signs and symptoms, including facial, auricular, ocular, vertebral, renal,
lung, cardiovascular, and limb deformities. Such individuals have severe‑to‑profound sensorineural hearing loss as a common feature. However,
implanting them with either cochlear implants or brainstem implants is challenging, and the article discusses literatures that have carried out
these procedures based on a systematic review of case reports. Databases such as PubMed, J‑Gate, and Google Scholar were used to extract
the articles related to auditory implantation and Goldenhar syndrome
The authors report a case of a bilateral limbal dermoid in a 4-year-old girl with no extraocular anomalies or systemic associations. The child's best corrected visual acuity was 20/50 in the right eye and 20/40 in the left eye. There was a small limbal dermoid located on the inferotemporal side in the right eye and a large elevated limbal lesion that extended over the visual axis in the left eye. Limbal dermoid excision and lamellar keratoplasty were performed in the left eye and followed by a simple excision of the limbal dermoid in the right eye. Histopathological examination confirmed the clinical diagnosis of a dermoid. At the 2-year follow-up visit, the child's best corrected visual acuity had improved to 20/30 in both eyes. Tumors of the corneal limbus are extremely rare. Simple excision is a viable method of treatment for smaller, superficial lesions, although larger lesions can obstruct the visual axis and produce irregular astigmatism and amblyopia. In this patient, surgical intervention resulted in a reasonable cosmetic and final visual outcome. [J Pediatr Ophthalmol Strabismus. 2021;58(4):e27-e29.].
Purpose:
To report the visual outcomes, refractive results, and complications of simple excision for limbal dermoid in the first 8 years of life.
Methods:
This retrospective chart review included all children aged 8 years or younger who underwent excision of a grade I or II limbal dermoid without involvement of the visual axis between the years 2000 and 2019.
Results:
Nineteen patients met the inclusion criteria. Their mean age was 4.2 ± 2.0 years (age range: 9 months to 8 years). The mean change in visual acuity was +1 ± 2.3 lines. The mean astigmatism was 3.20 ± 1.80 diopters (D) preoperatively and 3.50 ± 2.20 D at the last visit; the mean change in the astigmatism power was +0.20 ± 1.20 D (range: -1.50 to +2.75 D). Epithelial healing occurred in a mean of 8 days. No complications such as perforation were encountered. All patients had a good cosmetic outcome.
Conclusions:
Reepithelialization led to good cosmetic outcomes after this quick, simple, and uncomplicated procedure. There was no significant change in visual acuity or astigmatism, so amblyopia and astigmatism reduction are poor indications for limbal dermoid excision. Families should be counseled preoperatively that correction of the astigmatism and patching will remain essential in the postoperative management of amblyopia. [J Pediatr Ophthalmol Strabismus. 2021;58(3):196-201.].
Le syndrome de Goldenhar, ou spectre Oculo-Auriculo-Vertébral (OAVS [MIM: 164210]), est une anomalie du développement embryonnaire associant des malformations des structures dérivées des premier et second arcs branchiaux, notamment l'oreille, l'œil, la mandibule et les vertèbres. Il s’agit du deuxième spectre malformatif embryonnaire le plus fréquent de la tête et du cou. Le phénotype clinique esthétérogène et caractérisé par une microsomie hémifaciale, des anomalies auriculaires asymétriques, des dermoïdes épibulbaires, et des malformations vertébrales.Différentes causes non génétiques ont été rapportées dans l’OAVS, dont de nombreuses expositions toxiques (acide rétinoïque, mycophénolate mofetil, etc…). Par ailleurs, une origine génétique de l’OAVS aété rapportée chez des patients porteurs de variants de structure (locus 22q11.2, HMX1, OTX2, etc…), ou devariants ponctuels, touchant notamment MYT1, seul gène rapporté dans plusieurs études.L’objectif de ce travail a été, via l’application du séquençage de l’exome et du génome, d’identifier la ou les causes moléculaires de la survenue de l’OAVS chez des patients issus d’une cohorte de plus de 350 individus,et de confirmer cette identification de gènes par des études fonctionnelles. Celles-ci ont notamment utilisées des analyses en protéomique, à partir de modèles cellulaire et zebrafish, à même de permettre une étude de la morphologie cranio-faciale.Ce travail nous a permis d’identifier 3 gènes responsables d’OAVS : ZYG11B, ZIC3 et EYA3.Le séquençage de l’exome en trio chez un patient nous a permis d’identifier un variant non-sens de novo dugène ZYG11B. L’effet délétère de cette mutation sur la fonction de la protéine a pu être montré par surexpression de la forme mutée sur modèle cellulaire Hela, et par inactivation transitoire de zyg11 parmorpholinos sur modèle zebrafish.Dans une famille où ségrège sur un mode récessif lié à l’X un phénotype OAVS modéré, la réalisation du séquençage d’exomes et d’un génome a pu montrer une association de ces atteintes avec la présence d’une expansion de polyalanines du gène ZIC3.Enfin, nous avons identifié chez deux familles différentes la présence d’un même variant faux-sens du gèneEYA3 ségrègeant avec des atteintes de l’OAVS. L’effet délétère de cette mutation a été confirmé par la réalisation d’études fonctionnelles sur modèle cellulaire et modèle zebrafish, qui présente des malformations cranio-faciales.Par ailleurs, 3 diagnostics différentiels ont pu être fait chez des patients initialement considérés comme atteints d’OAVS, et concernant les gènes SOX5, EFTUD2, et EYA1. Enfin, deux autres gènes candidats ont pu être identifiés, et feront l’objet d’études fonctionnelles : SIX5 et SNRNP70.Si ce travail nous a permis de mieux comprendre les causes moléculaires impliquées dans l’OAVS, ses limites nous imposent de trouver de nouveaux outils pour poursuivre ces investigations. Parmi ceux-ci,l’intégration de technologies OMICs, l’identification de cibles après exposition toxique sur modèle animal,et l’utilisation de méthodes statistiques innovantes appliquées aux analyses génomiques semblent les plus pertinents.
