CONGENITAL UPPER lid COLOBOMA

Twenty-two patients with congenital upper lid colobomas were assessed Strabismus occurred in 13 cases and was associated with bands of fibrous tissue or adhesions, high refractive errors and opacities in the ocular media A traction test is strongly recommended early in all children with congenital upper lid colobomas A lateral cantholysis and direct closure was the commonest type of surgery, but unless the coloboma closed easily a lower lid rotation flap gave the best results.     

Congenital upper lid colobomas: management and visual outcome

PURPOSE: Congenital upper lid colobomas may be associated with ocular and systemic anomalies. The ophthalmologist's role involves both the diagnosis and management of their various ocular structural defects and management of the visual development. METHODS: All cases of congenital eyelid colobomas referred to the Singapore National Eye Centre between July 1992 and July 1995 were assessed for the extent of the eyelid defect, associated ocular anomalies, status of the cornea, and any systemic anomalies. RESULTS: Four infants were tested during this period. The mean follow-up was 25 months (range, 16 to 30 months). All required surgical correction of their eyelid defects before 2 years of age. The patients also had refractive errors requiring amblyopia management. Three of the babies also needed other surgical procedures. CONCLUSIONS: Congenital upper eyelid colobomas are a potential threat to vision at an early age and a significant cosmetic blemish later in life. Early surgical intervention is usually required when the defect is larger than one third of the eyelid margin. Close monitoring of the visual development of patients with congenital upper eyelid colobomas is also essential since the risk of amblyopia in these patients is high.     

Unilateral congenital ptosis due to plexiform neurofibroma, causing refraction error and secondary amblyopia.

An 8-year-old boy with congenital ptosis of the right upper eyelid due to plexiform neurofibroma was operated on because of a rapidly worsening of his ptosis. Only partial removal of the tumor was possible. A hypermetropic astigmatism of the right eye was caused by the condition of the upper lid, with secondary amblyopia. This finding suggests that in cases of congenital ptosis the presence of a lid tumor must be suspected. Such a tumor causes ptosis and this can lead to refraction error and amblyopia.     

Atypical oculoplastic surgery in children (author's transl)]

The problems of restorative surgery for inborn eyelid-alterations are indicated here with examples. The following experiences result. 1. Inborn eyelid colobomas without disfigurement of the inner canthus are in general readily correctable. 2. Inborn eyelid colobomas with a disfigured inner canthus and atresia of the canaliculi hardly ever permit the production of a cosmetically satisfactory inner canthus, and never permit a functionally satisfactory one. The use of lacoductorhinostomy, according to L. Jones, is problematic here. 3. The correction of inborn eyelid colobomas in the case of Goldenhar's syndrome is difficult because, due to additional dermoids and fibromas, irregular excisions become necessary. Thus, the lid margin becomes significantly deformed. A considerable temporal displacement of the skin cannot be avoided. 4. Any plastic correction of an inborn, genuine eyelid tumor is difficult, if the important structures of the eyelid--especially the tarsus and levator muscles--are only fragmentarily developed. In the case of the large, soft fibroma of the upper eyelid in neurofibromatosis, only a static eyelid in middle position can be accomplished. 5. Very often, motility problems arise in this connection. Both in Goldenhar's disease and in Recklinghausen's disease, primary dysplasis of the rectus externus muscle occurs.     

全身麻醉下额肌瓣悬吊治疗小儿单眼重度先天性上睑下垂

目的:观察全身麻醉下额肌瓣悬吊术治疗小儿单眼重度先天性上睑下垂的临床效果和特点。方法:对23例小儿单眼重度先天性上睑下垂行全身麻醉下额肌瓣悬吊术,男13例,女10例,2.5～7(平均4.6)岁,患眼提上睑肌力2～4(平均3.1)mm;术前确定健眼平视前方时上睑缘的位置(在上提患眼睑缘至与对侧眼等高时)。术中根据全身麻醉下眼位略上转的状态及术前健眼上睑缘的位置,将患眼睑缘上提至上角巩缘以下1～3mm。结果:随访1wk～1a,20例(87%)双眼睑缘完全或基本等高(双眼上睑缘高度差在1mm内),3例(13%)欠矫,双眼睑缘高相差约2～3mm。所有病例外观术后均较术前有明显改善或改善,均无严重的睑缘畸形、睑外翻和暴露性角膜炎等并发症,但有6例患儿术后外侧睑缘稍低,与对侧眼略不对称。结论:全身麻醉下额肌瓣悬吊术治疗小儿单眼重度先天性上睑下垂关键在于术前确定健眼上睑缘的位置,并根据术中实际眼位的变化确定上睑缘上提的量。     

提上睑肌缩短术矫正临界重度先天性上睑下垂

目的评估提上睑肌缩短术矫正临界重度先天性上睑下垂的疗效。方法收集22例（27眼）临界重度先天性上睑下垂患者,患眼均接受提上睑肌缩短术,其中2例（2眼）眼球上转受限患者适当欠矫。术后3～6个月定期随访1次,评估上睑缘位置和角膜状况。结果随访4—46个月,矫正患者中16例（20眼）双眼上睑高度基本对称,3例（4眼）上睑下垂轻度复发,1例（1眼）完全复发。2例欠矫患眼上睑位置无明显变化。未见暴露性角膜炎、结膜脱垂或倒睫等并发症。结论提上睑肌缩短术可有效矫正临界重度先天性上睑下垂。     

Eyelid reconstruction with tarsomarginal grafts

Summary In the past 3 years, 85 basal cell carcinomas were treated in our clinic using eyelid reconstruction. During the same period, 54 lids were reconstructed after other diseases, mostly after chemical burns. In one of the 54 patients, the upper lid was reconstructed using a tarso-marginal graft after congenital coloboma. Method: In 31 of the 85 patients with basal-well carcinoma (36 %), so much tarsus was lost that a transplantation of tarsus was necessary. Fifteen of the 31 patients were treated with a Hughes-plasty and 16 using a tarsomarginal graft, two in the upper lid. Results: In eight of the remaining 16 cases, the defect was less than one half of length, so that the graft was taken from the second lower lid. In the remaining eight patients, the defect was two thirds of length or longer. In six cases, a 7 mm-graft was taken from the upper lid. As the tarsus from the upper lid measures 10 mm and is thus twice as big as the lower lid tarsus, it was divided into two grafts, resulting in two grafts measuring 7 × 5 mm. They were placed in the lower lid (“double tarsomarginal graft”). The former lower part with lashes was placed in the middle of the lower lid, the former upper part peripherally. In two patients, the defect was healed with three tarsomarginal grafts. A pedicle skin flap was transposed to cover the posterior grafts. Remaining defects were closed with free skin transplants. Conclusion: The tarsomarginal graft permits a short operation time and early rehabilitation of the patients. The disadvantage of the double tarsomarginal graft is that the more valuable upper lid tarsus is used to reconstruct the less valuable lower lid tarsus.      

The association of unilateral congenital glaucoma and congenital lower lid entropion: causal or casual?

This case documents unilateral congenital glaucoma associated with congenital lower lid entropion. A 2-year-old female infant was referred for evaluation and treatment of right-side buphthalmos caused by congenital glaucoma associated with bilateral congenital lower lid entropion that was prominent on the right side and present at birth. Examination disclosed a lower eyelid entropion of the right side that was treated surgically by reinserting the disinserted retractor aponeurosis to anterior inferior tarsal border. After three weeks, the patient was successfully treated with primary combined trabeculotomy-trabeculectomy for congenital glaucoma. The entropion of the left lower lid was asymptomatic and did not require any surgery. Buphthalmos caused by congenital glaucoma may be associated with congenital lower lid entropion and the association may be causal or coincidental.     

Two cases of CHARGE syndrome with multiple congenital anomalies

We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome.     

Idiopathic aponeurotic ptosis in young adults

The author reports two cases of progressive, bilateral, aponeurotic ptosis of the upper lid in young adults with no history of trauma or lid edema, and no sign of neuro-muscular disorder. He hypothesises that the ptosis could be a late manifestation of a congenital weakness of the levator-muscle attachment to the tarsus and may result from a developmental anomaly of the anterior portion of the superior orbital mesodermic complex.     

Neurofibromatosis and congenital glaucoma. A case report.

Congenital glaucoma may be associated with other developmental disorders and particularly with neurofibromatosis. A baby girl, with unilateral buphthalmus, thickening of the upper eye lid on the same side and café au lait spots on her body lost this eye in spite of repeated interventions. Histological examination revealed the presence of neurofibromatic and congenital glaucoma changes in the eye. There was no neurofibroma in the angle area which could have caused glaucoma. Glaucoma was due to failure of normal development of the angle.     

经典提上睑肌缩短术治疗重度先天性上睑下垂

目的评估经典提上睑肌缩短术治疗重度先天性上睑下垂及手术治疗效果。方法重度先天性上睑下垂20眼行经典提上睑肌缩短术结果本文16例20眼,平均随访6个月。术后睑裂高度7～9mm者18眼,6mm者2眼,双眼睑裂对称,重睑弧度自然,部分病例有轻度睑裂闭合不全,4眼一过性轻度结膜脱垂。结论该术式矫正重度先天性上睑下垂效果良好。     

Ocular manifestations of congenital lamellar ichthyosis

PURPOSE: To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied. METHODS: The case histories of three children presenting to the oculoplastic clinic were reviewed. All were diagnosed with congenital lamellar ichthyosis and under the care of the Dermatology department. Family history and pedigree analysis was performed to determine mode of genetic inheritance. Ocular examination for visual acuity, eyelid and eyelash malposition, lid function and closure were carried out. Corneal examination including tests for exposure was also done. RESULTS: All three patients had eyelid position abnormalities from the systemic disease. There was no clinical evidence of conjunctival involvement. One patient required full thickness skin grafts to treat corneal exposure secondary to lower lid ectropion. One had mild lower lid ectropion but without corneal exposure. The third case had the unusual finding of inward turning of the anterior lamella of the upper eyelid with a marked lash ptosis and only mild ectropion of the lower lid. CONCLUSIONS: Congenital lamellar ichthyosis is a heterogeneous disorder with phenotypic variability. The most common eyelid abnormality is cicatricial ectropion of the upper and mainly lower eyelids. Most cases are managed conservatively although in severe cases secondary corneal exposure may require surgical correction. In this condition, to the best of our knowledge, the tendency for the eyelids to turn inwards has not previously been described.     

Congenital eyelid retraction.

Twenty two patients with primary congenital lid retraction affecting either the upper or lower eyelids or both are presented. The clinical features and management are discussed in the hope that recognition of this clinical entity will prevent unnecessary investigation.     

先天性眼睑缺损修复术

目的：探讨利用皮肤旋转滑行皮瓣及异体巩膜分层修复先天性巨大眼睑缺损的效果。方法：设计分层修复巨大眼睑缺损的方法，采用局部转移结膜瓣修复睑结膜面，利用异体巩膜代替睑板，皮肤层面采用缺损区延长切口及鼻侧旋转滑行皮瓣修复，达到一期修复全层眼睑缺损的目的。结果：6例先天眼睑缺损再造术，术后随访6月以上，外观满意，睑裂闭合良好，眼睑瞬目功能正常，角膜透明。结论：皮肤及结膜旋转滑行瓣及异体巩膜代替睑板是一期修复先天性巨大眼睑缺损的简便有效方法。     

术中提上睑肌肌张力评估后单纯提上睑肌缩短术的临床疗效观察

目的 探讨根据术中对提上睑肌肌张力评估采取的单纯提上睑肌缩短术对儿童重症先天性上睑下垂的疗效方法 对169例(216只眼)重症先天性上睑下垂患儿,根据术中实际提上睑肌肌张力的评估,设计手术方式及手术量,其中143例(182只眼)行单纯提上睑肌缩短术,结果 169例(216只眼)术后6个月至2年随访,上睑缘位置均在瞳孔以...     

Aeolus Press awards first Orbit Medal to Gabe M. Bleeker Gabe

Congenital upper lid retraction is a rare anomaly in which one or both eyelids are abnormally elevated. Unilateral involvement in males is the most frequent presentation. An intrinsic disorder of the levator or Muller muscle is the most likely etiology, since neurological, systemic, or orbital abnormalities have not been described. The authors describe two cases of congenital upper lid retraction. The levator muscle from one patient and an age matched control were examined histologically and ultrastructurally. The lid retraction and control specimens demonstrated similar fiber diameters, similar amount of connective tissue between fascicles, and absence of inflammatory cells or intercellular edema. Electron microscopy of the lid retraction specimen showed small areas of Z-line streaming and myofibrillar disarray which were not demonstrated in the control specimen. The significance of these ultrastructural findings is unclear, since they have been reported in some healthy young subjects, as well as in several muscle disorders.     

The incidence,embryology, and oculofacial abnormalities associated with eyelid colobomas

Purpose

To describe a cohort of patients with congenital eyelid coloboma, to identify associated ocular and craniofacial abnormalities, and to establish any correlation between the size and location of eyelid colobomas and the presence of such abnormalities.

Methods

An observational case series of 55 patients with eyelid coloboma treated by a single surgeon (JROC) between 1985 and 2005.

Results

Eyelid colobomas predominantly affected the upper lids (93%), and were typically unilateral (76%). About a third (29%) were an isolated finding, with the remainder associated with other ocular (62%) and/or craniofacial (53%) abnormalities. Of those with ocular abnormalities; 19 (56%) had conjunctival traction bands, 16 (47%) choristomas, and 8 (24%) an abnormal globe. Of those with craniofacial abnormalities; 13 (45%) had Goldenhar Syndrome, 10 (35%) clefting disorders, and 4 (14%) Fraser Syndrome. Clefting disorders were typically associated with more severe colobomas and a higher incidence of conjunctival traction bands, first arch syndromes with smaller colobomas and more choristomas. Overall large colobomas were significantly associated with the presence of other craniofacial defects compared with small colobomas (P<0.01, χ²), but coloboma size did not correspond with the presence of other ocular abnormalities.

Conclusions

Coloboma size, location, and associations in this series are consistent with our current understanding of eyelid embryogenesis. It is likely that those colobomas associated with other craniofacial and ocular abnormalities are those which result from errors earlier in embryogenesis during eyelid specification, growth, and closure, whereas isolated colobomas arise later during eyelid separation, and after codependent structures have developed.     

Botulinum A toxin for (expressionistic) ptosis overcorrection after frontalis sling.

Botulinum A toxin was injected into the frontalis muscle in two patients with complete third nerve palsies to limit intermittent upper lid retraction after a frontalis sling procedure. This form of lid retraction is noted during periods of active facial movement with occipitofrontalis muscle contraction. Although upper lid position may be symmetric when the facial muscles are adynamic, the upper lid may retract during periods of active facial expression. This type of lid retraction was corrected using Botulinum A toxin injections into the frontalis muscles, without affecting the lid position when the facial muscles are adynamic. Both improvement in appearance and intermittent exposure were noted in both cases. Additionally, a blunting of the transverse forehead creases occurred over a defined area after this injection, representing a clinical example of a denervation field produced by a point injection of botulinum toxin.