Eyelid Coloboma Research Articles

Familial Treacher Collins Syndrome: Report of 3 Cases

Treacher Collins syndrome (TCS) is a craniofacial developmental disorder of the first and second pharyngeal arches, with a high penetrance and variable expressivity related to malfunctions in migration of facial structures during embryonic development and TCOF1 gene mutation in approximately 90% of the cases. A 26-year-old man (patient 1) presented with bilateral hypoplasia of the zygomatic bone, palpebral fissures with lower eyelid coloboma, bilateral microtia, severe mandible micrognathia, and a convex facial profile. Further familial investigation led to patients 2 (34 years old) and 3 (38 years old), exhibiting mild but similar clinical features, indicating a broad phenotypic variability among the patients. These evidences clearly show an autosomal dominant familial pattern of TCS and its varied expression. The patients are currently being followed up by the local basic health unit.

Delleman syndrome: A case report from West Africa - features and the challenges of management

Delleman syndrome is a rare congenital disorder. We report an 8-month old female with a history of a fleshy mass covering the left eye since birth. Examination revealed poor vision in the left eye, an upper lid coloboma and an epibulbar dermoid with a large area of alopecia and scalp hypoplasia involving the left frontoparietal region. Transfontanelle ultrasound scan did not reveal any intracranial cyst. Cranial computerised tomography subsequently revealed characteristic cerebral malformations of Delleman syndrome. This report demonstrates clinical and computed tomographic features of a case of Delleman syndrome with emphasis on the usefulness of transfontanelle ultrasonography in assessing for life-threatening intracerebral cysts or hydrocephalus, particularly in resource-limited settings, where neuroimaging is not readily available or affordable.

Manitoba Oculo-tricho-anal Syndrome: Complex Surgical Correction of an Extensive Upper Lid Coloboma with Congenital Symblepharon

Manitoba Oculo-tricho-anal Syndrome (MOTA) is a rare autosomal recessive disorder characterized by eyelid coloboma, cryptophthalmos, anophthalmia or microphthalmia, abnormal hair growth from scalp to eyebrow, bifid or broad nasal tip, and gastrointestinal anomalies including omphalocele and anorectal malformations.[1, 2] We describe a multi-stage surgical approach to repair a right upper lid coloboma with an extensive congenital superomedial symblepharon obscuring the pupil in the context of MOTA. Surgical steps included reconstitution of the eyelid’s anatomical landmarks with dissection of the symblepharon invading the opacified cornea, freeing the pupillary axis, creation of a superior fornix, advancement of myocutaneous/periosteal flaps, and insertion of an implant to recreate the absent eyelid. This resulted in significant improvement of ocular surface protection, quality of life, and allowed for amblyopia treatment.

Isolated Upper Eyelid Coloboma

Etiology of congenital eyelid coloboma is still unclear. It is a formation anomaly of complete or partial eyelid defect that can accompany other systemic diseases. 19 month old girl had an isolated congenital upper eyelid coloboma without any additional medical conditions. Defect was corrected with pentagonal incisions and advancement flaps. In our study we like to emphasize the importance of systemic analyze for additional conditions and to show that single stage repair is adequate.

Manitoba Oculotrichoanal Syndrome: First Case Report From India

Manitoba-oculo-tricho-anal (MOTA) syndrome is very rare syndrome characterized by aberrant hairline, eye anomalies (ocular hypertelorism, cryptophthalmos, and upper eyelid colobomas), bifid nose, omphalocele and anorectal anomalies. MOTA syndrome was first reported in 1992 in Oji-cree community from the Island Lake region of Manitoba, Canada. Till date very few cases of MOTA have been reported and none from India. We report first case of MOTA syndrome from India. A two month old male baby was brought with complaints of defect in right upper eye lid since birth. He was the second born child of a second degree consanguineously married couple at 37 weeks of gestation. On physical examination, the baby had right upper eyelid coloboma , ocular hypertelorism, bifid nose, small nasal ala and bilateral undescended testis. Investigations revealed high anorectal anomaly and right renal agenesis. Whole exome sequencing showed homozygous nonsense variation in exon 25 of the FREM1 gene that resulted in a stop codon. This case gains importance as it is the first case of MOTA being reported from India and bilateral undescended testis which was seen this case is an addition to the variable clinical spectrum of MOTA.

Pendular eyelid flap: a novel technique for the management of extensive congenital upper lid colobomas

We present a novel technique for the surgical management of sizeable medial upper eyelid colobomas that entails advancement of an ipsilateral upper lid flap sustained by a levator aponeurosis-Müller-conjunctiva pedicle and combined with a lateral semicircular flap from the affected lid. The technique was used in 4 consecutive pediatric patients of mean age 21.2months and mean coloboma size 12.3mm and resulted in sufficient cornea protection, rapid rehabilitation, and satisfying cosmesis.

Large upper eyelid coloboma repair: a one-stage, one-site technique

Current techniques for repairing large eyelid colobomas require preparation of other tissue sites and occasionally more than one procedure. We present a technique that requires only one procedure and is limited to the colobomatous eyelid; in addition, it is specifically designed to help avoid postoperative astigmatic and obstructive amblyopia. Outcomes are demonstrated in 3 cases of hemifacial microsomia. Large colobomas on the upper eyelid can be successfully and aesthetically repaired with only one procedure, incising only the congenitally abnormal eyelid.

Treacher Collins syndrome: A case report and review of ophthalmic features

Treacher Collins syndrome is a congenital disorder with bilaterally symmetric anomalies of the structures developing from the first and second branchial arches. The ocular and orbital features are an obligatory component for the diagnosis. We presented a case of typical, complete syndrome and also reviewed the varied ophthalmological manifestations of the disease in the literature. Antimongoloid slanting of palpebral fissures and lower lid colobomas are constant features of the syndrome. However, varied ocular and lacrimal drainage anomalies are also associated. TCS is a syndrome with multiple ocular and orbital features, a knowledge of which will help in the diagnosis of incomplete forms of the syndrome.

State of the Art in Congenital Eyelid Deformity Management.

The eyelids are crucial in maintaining the health of the ocular surface and have an important role in facial aesthetics. Interruption in eyelid development can lead to congenital eyelid deformities. This article reviews eyelid anatomy, the most common congenital eyelid abnormalities such as congenital ptosis, eyelid coloboma, and epiblepharon, and the management of these conditions.

Description of Clinical and Surgical Aspects of Four Cases of Lip Commissure to Eyelid Transposition for Repair of Eyelid Coloboma in Cats

Background: Eyelid coloboma or eyelid agenesis is the most common congenital disease in cats. It can affect both the upper and the lower lids and is commonly bilateral. This congenital defect has been reported in several breeds, such as Persian and Domestic Short-Haired Cat. Generally, this defect results in inversion of the colobomatous eyelid, which can cause trichiasis and inflammatory keratitis and corneal ulceration. The only effective treatment is blepharoplasty. This paper describes the clinical and surgical aspects of four patients treated by lip commissure to eyelid transposition for the repair of eyelid coloboma using the technique described in 2010. Results of this procedure have never been reported in Brazil. Cases: Seven eyes of four cats presenting eyelid coloboma affecting up to two thirds of the eyelid were evaluated in this study. Two of the four cats were males and two were females; their average age was 3 years. All patients were admitted at the same institution, and the main issues were purulent discharge and impaired vision. Diagnosis was based on physical and ophthalmic examination. Non-ulcerative keratitis was present in all cases. Corneal ulcer was diagnosed in three patients by the fluorescein dye test. In two cats, a corneo-conjunctival dermoid was found at the temporal-dorsal region of one eye, and measured approximately 0.3 mm; and the other two exhibited microphthalmia in one eye. No abnormalities were seen in the anterior chamber, lens, and vitreous. One of the cats exhibited retinal detachment, and one exhibited testicular agenesis, both of the abnormalities diagnosed by ultrasound. Complete blood count and biochemical tests were performed in all patients before general anesthesia for the corrective procedure. Before surgery, eyes with ulcerative and non-ulcerative keratitis were treated with topical antibiotics and lacrimommimetics. In the 7 eyes, lip commissure to eyelid transposition technique was used for correction of the colobomatous defect. The procedure consisted of a mucocutaneous flap that simulates a natural eyelid. Corneo-conjunctival dermoids were also removed at the same time by superfcial keratectomy. In the postoperative period, all patients received oral non-steroidal antiinflammatory drug and an antibiotic, as well as cleansing of the surgical wound. All patients exhibited improvement of corneal abnormalities following one week of the procedure. However, three cats had suture dehiscence on the lip commissure, which healed by secondary intention after a week. Two weeks after surgery, superfcial necrosis was observed at the tip of the edge of the transplanted flap, in all cats. In order to promote healing, the necrotic edges were debrided at the time of sutures removal, 10 to 15 days after surgeries; at this time, both lip commissure and eyelid wound had already healed. Facial distortion was presente owing to skin overlapping on the site of the flap. All patients had their ability to blink restored, and there was absence of trichiasis on the flap. However, three cats had thichiasis caused by retraction of the pre-existing eyelid at the medial canthus. Discussion: Good functional and esthetic results were achieved, similarly to those previously described, which allows us to consider that this technique is appropriate for eyelid reconstruction in eyelid coloboma or agenesis cases. Nevertheless, this procedure can have some complications, such as suture dehiscence, facial deformity, superfcial necrosis of the edges of the flap, and trichiasis of the pre-existing eyelid of the medial canthus. To overcome these issues, authors suggest removal of the skin under the flap to decrease facial distortion, and removal of the whole pre-existing eyelid, in order to avoid trichiasis caused by retraction of this tissue. Keywords: blepharoplasty, congenital defect, eyelid, feline.

A rare case of beaten copper skull pattern associated with Treacher Collins syndrome

Treacher Collins syndrome (TCS) is an autosomal dominant disorder with craniofacial abnormality. Typical features are downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. Management requires a multidisciplinary team from birth through adulthood with proper planning, counselling, and surgical techniques. Here, we present a case of TCS with a very unusual and rare finding of beaten copper skull appearance on the radiograph.

Novel technique for the repair of large upper eyelid colobomas

Novel technique for the repair of large upper eyelid colobomas

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

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. An observational case series of 55 patients with eyelid coloboma treated by a single surgeon (JROC) between 1985 and 2005. 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, χ(2)), but coloboma size did not correspond with the presence of other ocular abnormalities. 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.

Congenital Upper Eyelid Coloboma: Clinical and Surgical Management.

Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. A descriptive, observational, retrospective study was performed including patients with congenital eyelid colobomas referred to Asociación para Evitar la Ceguera en México I.A.P. “Dr. Luis Sánchez Bulnes” between 2004 and 2014 and assessed by the Oculoplastics and Orbit Service. Results. The four cases required surgical treatment of the eyelid defects before one year of age and their evolution was monitored from the time of referral to the present day. One of the patients needed a second surgical procedure to repair the eyelid defect and correct the strabismus. Conclusions. Eyelid colobomas are a potential threat to vision at an early age, which requires close monitoring of the visual development of patients.

Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.

Purpose:To review the recent literature and describe the authors’ experience with congenital upper eyelid coloboma.Methods:In this review, we will summarize the embryologic and etiopathogenetic bases of congenital upper eyelid coloboma, and study the published clinical reports. We will also attempt to briefly shed some light on the rarer syndromic curiosities associated with upper eyelid coloboma.Results:Congenital upper eyelid colobomas are one of the few nontraumatic oculoplastic emergencies that may occasionally present in the first few days of life with a corneal ulcer and may even present with impending perforation. They can present with or without corneopalpebral adhesions, may be isolated findings or a part of a larger spectrum of congenital anomalies as in the case of Fraser syndrome or Goldenhar syndrome, or could be associated with other rare curiosities that could challenge the clinician with a huge diagnostic dilemma.Conclusions:Existing literature dealing with congenital colobomas of the upper eyelid is fraught with nosologic problems, confusing etiologies, and overlapping clinical features. We attempted to clarify the salient clinical features, outline the management principles, and until a time in the not-so-distant future where advances in molecular genetic testing would help redefine the etiology and the diverse clinical spectrum of genetic diseases associated with upper eyelid colobomas, we propose a simplified classification scheme based on the relation of the coloboma to the cornea, the presence or absence of systemic features, and all the syndromic and nonsyndromic associations of congenital coloboma of the upper eyelid known today.

Delleman–Oorthuys syndrome: ‘Oculocerebrocutaneous syndrome’: Is this a variant?

Delleman–Oorthuys syndrome or oculocerebrocutaneous syndrome (OCCS) is a rare genetic disorder characterized by eye abnormalities, skin abnormalities, areas of alopecia in combination with hydrocephalus. Until date, only 28 patients with equivocal diagnosis of OCCS have been reported. All of which are sporadic, with no risk of recurrence in the siblings. No etiological cause has been found as yet. It may also show overlapping clinical features with other syndromes like Goldenhar syndrome, encephalo-cranio-cutaneous lipomatosis and Goltz syndrome. We present a case of a 9-month-old male child who presented with unilateral temporo parietal aloepecia, multiple cystic lesions on the upper eyelid and adjacent periorbital areas, as well as an upper eyelid coloboma and epibulbar dermoid, all of which were present since birth.

Limbal Stem Cell Transplantation for Limbal Dermoid in a Case of Goldenhar Syndrome

Goldenhar Syndrome (known as Oculoauriculovertebral Syndrome (OAVS) or facioauriculovertebral dysplasia) is a rare congenital defect classically involving eye anomalies with or without anomalous development of the ear, nose, lips, soft palate, mandible and vertebra. It is a morphogenetic anomaly associated with the 1st and 2nd branchial arches. We report a case of 9 months old male child presented with ocular abnormalities. On evaluation, he had the classical signs of this syndrome like limbal dermoids, eyelid coloboma, preauricular skin tags and hemi facial microsomia. This patient was first seen in January 2010 and has been followed and treated for the same. The patient underwent a surgery for right eye limbal dermoid at the age of 4 years. The initial presentation with course of the disease and Post-Surgical outcome is described here. The Authors performed dermoid excision with autologous conjunctiva along with limbal stem cells transplantation and achieved a satisfactory surgical outcome.

Limbal Stem Cell Transplantation for Limbal Dermoid in a Case of Goldenhar Syndrome

Goldenhar Syndrome (known as Oculoauriculovertebral Syndrome (OAVS) or facioauriculovertebral dysplasia) is a rare congenital defect classically involving eye anomalies with or without anomalous development of the ear, nose, lips, soft palate, mandible and vertebra. It is a morphogenetic anomaly associated with the 1st and 2nd branchial arches. We report a case of 9 months old male child presented with ocular abnormalities. On evaluation, he had the classical signs of this syndrome like limbal dermoids, eyelid coloboma, preauricular skin tags and hemi facial microsomia. This patient was first seen in January 2010 and has been followed and treated for the same. The patient underwent a surgery for right eye limbal dermoid at the age of 4 years. The initial presentation with course of the disease and Post-Surgical outcome is described here. The Authors performed dermoid excision with autologous conjunctiva along with limbal stem cells transplantation and achieved a satisfactory surgical outcome.

Reconstruction of a Congenital Upper Eyelid Coloboma Using a Lamellar-Based Technique

A 17-year-old woman presented with a left upper eyelid coloboma from birth, extending from the lateral side of the punctum to the center of the eyelid as much as 10 mm in width. The posterior lamella (tarsus) was lost completely in this area, but an anterior lamella defect was limited to 1 to 2 mm in height. The area was devoid of eyelashes. Part of the medial tarsal plate was spared. The anterior and posterior lamellae of this eyelid were separately reconstructed with an anterior skin crease incision and posterior wedge excision with a good cosmetic outcome.

Diprosopus dirrhinus: A rare case report

Diprosopus or craniofacial duplication is an extremely rare craniofacial anomaly. It is the rarest form of conjoined twins. One of the types of incomplete facial duplication is the duplication of nose known as diprosopus dirrhinus, of which there is only a single case report from India to date. In the present article, the authors describe a 5-year-old boy having diprosopus dirrhinus with severe hypertelorism, right cleft 12 and right upper eyelid coloboma, a combination of anomalies which have not been reported to date.