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BMJ Open Ophthalmology 2021Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure with varied clinical associations. None of the studies documented a discrete... (Review)
Review
Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure with varied clinical associations. None of the studies documented a discrete review of ophthalmic presentations in PL. The principal aim of the present study is to explore the ophthalmic manifestations of PL. The ancillary goal is to derive a relationship between congenital deformity in PL and various ophthalmic anomalies. Databases were searched in order to obtain articles related to PL. A qualitative systematic analysis of 100 subjects was performed. In PL, eyelid coloboma (32.6%) is the most common ocular feature, followed by hypertelorism (25.3%), iris coloboma (22.4%), lacrimal system abnormality (20.7%), malpositioned eyebrow (14.4%) and retinochoroidal coloboma (12.9%). Sinonasal deformity is the most common systemic abnormality, detected in 87.9% of cases of PL, as compared with central nervous system involvement (56.2%) and other anomalies. The analysis showed a strong significant association between brain abnormalities and hypertelorism (p=0.000) and between brain abnormalities and micro-ophthalmia/anophthalmia (p=0.000). Statistically significant association was noted between cumulative ocular abnormalities and cumulative systemic abnormalities (p=0.001). The present study on PL reviewed the salient features of this rare congenital disorder. The study outcome provides a new aspect to concomitant ocular abnormalities. This study supports the view that other congenital anomalies in cases of PL had significant influence on certain ophthalmic anomalies.
PubMed: 34395913
DOI: 10.1136/bmjophth-2020-000558 -
Ophthalmic Plastic and Reconstructive... 2015To review the recent literature and describe the authors' experience with congenital upper eyelid coloboma. (Review)
Review
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.
Topics: Coloboma; Eye; Eyelids; Fetal Development; Humans; Ophthalmologic Surgical Procedures; Plastic Surgery Procedures
PubMed: 25419956
DOI: 10.1097/IOP.0000000000000347 -
Case Reports in Ophthalmological... 2015Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. A...
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.
PubMed: 26366313
DOI: 10.1155/2015/286782 -
Animals : An Open Access Journal From... Nov 2023Driven by natural and artificial selection, the domestic Huoyan geese from Northern China have gradually generated specific phenotypes and climatic adaptations. To...
Driven by natural and artificial selection, the domestic Huoyan geese from Northern China have gradually generated specific phenotypes and climatic adaptations. To understand the genetic basis of the two specific phenotypes that are sex linked, including upper eyelid coloboma and gosling feather color, as well as the climatic adaptations of the Huoyan goose, which can contribute to the artificial selection and breeding of geese. We selected Huoyan geese and nine Southern Chinese goose breeds and identified their divergence on the genomic level. Using selective sweep analysis, we found that on chromosome Z influences the upper eyelid coloboma phenotype of the Huoyan goose, and is a plausible candidate gene for the Huoyan gosling feather color. We obtained a number of genes related to cold adaptation in Huoyan geese, mainly involved in physiological functions such as metabolism, angiogenesis contraction and circulatory system, apoptosis, immunity, stress, and neural system. The most interesting candidates for cold adaptation are and that are associated with energy metabolism and stress. We also obtained some genes related to heat adaptation, including , associated with neurology; , associated with skin pigmentation; and , associated with apoptosis. These findings deepen our understanding of the genetics of specific phenotypes and climate adaptation in local geese and provide insights for the selection of goose breeds.
PubMed: 38066959
DOI: 10.3390/ani13233608 -
Saudi Journal of Ophthalmology :... 2021Ocular choristomas are rare lesions that have been reported at the conjunctiva, sclera, orbit, or intraocularly with significant potential for visual disturbance. The...
Ocular choristomas are rare lesions that have been reported at the conjunctiva, sclera, orbit, or intraocularly with significant potential for visual disturbance. The complex type of choristomas shows a mixture of different cartilaginous, glandular, and muscular tissue in addition to fat. We present a patient with an associated eyelid coloboma and complex choristoma. A 12-day-old baby boy was referred to our hospital with an upper medial eyelid coloboma affecting almost two-thirds of the eyelid length with an additional sub-brow mass since birth. The baby also had secondary findings to the eyelid coloboma defect: temporal conjunctival symblepharon, vascularized cornea, and inferior pannus. The patient underwent an upper eyelid reconstruction with excisional biopsy of the sub-brow mass, which was diagnosed as a complex choristoma. This is the first case of an eyelid coloboma-associated with complex choristoma without any other systemic associations.
PubMed: 35601867
DOI: 10.4103/SJOPT.SJOPT_160_21 -
Eye (London, England) Apr 2015To describe a cohort of patients with congenital eyelid coloboma, to identify associated ocular and craniofacial abnormalities, and to establish any correlation between... (Observational Study)
Observational Study
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, χ(2)), 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.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Coloboma; Craniofacial Abnormalities; Eye Abnormalities; Eyelids; Female; Humans; Incidence; Infant; Infant, Newborn; Male; Retrospective Studies; Syndrome; Young Adult
PubMed: 25613848
DOI: 10.1038/eye.2014.335 -
American Journal of Ophthalmology Case... Mar 2023To report a case of lacrimal system agenesis in a patient with Goldenhar syndrome.
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 under anesthesia prior to surgery revealed agenesis of the upper and lower eyelids canaliculi. Surgery was performed to correct left upper eyelid coloboma. At a second stage, the epibulbar dermoid was excised and ocular surface was repaired with amniotic membrane graft.
CONCLUSION AND IMPORTANCE
Goldenhar syndrome is a rare congenital anomaly arising from the abnormal development of the first and second branchial arches. Anomalies of lacrimal drainage system are uncommon in Goldenhar including nasolacrimal duct obstruction and common canalicular obstruction. Agenesis of the lacrimal system has not been described in cases of Goldenhar syndrome. This case represents a unique and uncommonly seen feature.
PubMed: 36544754
DOI: 10.1016/j.ajoc.2022.101766 -
Indian Journal of Ophthalmology 2011Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us...
Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.
Topics: Abnormalities, Multiple; Adolescent; Biopsy; Coloboma; Diagnosis, Differential; Eyelid Neoplasms; Eyelids; Female; Follow-Up Studies; Humans; Lipoma; Ophthalmologic Surgical Procedures; Tomography, X-Ray Computed
PubMed: 21836344
DOI: 10.4103/0301-4738.83615 -
Indian Journal of Ophthalmology May 2014Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin,... (Review)
Review
Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. The left eye showed conjunctival congestion and corneal vascularization. Dermatological examination showed alopecia, nevus psiloliparus, focal dermal hypoplasia on forehead, multiple focal aplastic lesions on the scalp, skin tag at canthus, and lipoma in the fronto-temporal region. Imaging revealed calcification of the right globe, hydrocephalus, agenesis of corpus callosum, multiple intracranial cysts, calcification, and lipomas. The constellation of these clinical and the imaging findings led to a diagnosis of encephalocraniocutaneous lipomatosis. This case report and review of the literature is presented to provide a synopsis of problems likely to be encountered by an ophthalmologist who treats patients with ECCL.
Topics: Diagnosis, Differential; Eye Diseases; Female; Humans; Infant, Newborn; Lipomatosis; Neurocutaneous Syndromes; Tomography, X-Ray Computed; Ultrasonography, Doppler, Transcranial
PubMed: 24881613
DOI: 10.4103/0301-4738.133521