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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 -
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 -
Journal of the American Veterinary... Dec 2023To determine incidence, trends in presentation, associated ocular lesions and other diseases, treatment modalities, and case outcomes of eyelid coloboma cases in snow...
OBJECTIVE
To determine incidence, trends in presentation, associated ocular lesions and other diseases, treatment modalities, and case outcomes of eyelid coloboma cases in snow leopards.
ANIMALS
49 snow leopards with eyelid coloboma living under managed care in North America.
METHODS
Medical records were retrospectively searched to identify snow leopards in which eyelid coloboma was diagnosed between January 1, 2000, and December 31, 2020. Data recorded from each animal included signalment, ophthalmic examination information, clinical signs, concurrent health conditions, medical and/or surgical interventions, time to resolution of signs, recurrence of clinical signs, and direct relatives with a history of eyelid coloboma.
RESULTS
Ocular clinical signs were present at diagnosis in most cases but not seen in all cases. Corrective procedures were undertaken in 39 cases. Clinical signs were resolved by the total combination of interventions in 84.6% of individuals; however, signs resolved in only 33.3% of cases after a single surgical reconstruction or cryoablation procedure per eye.
CLINICAL RELEVANCE
Eyelid coloboma is widespread in the North American snow leopard population. A high percentage (73.5%) have an affected sibling, parent, or grandparent, suggesting a heritable component. Surgical correction resolves or improves clinical signs in most cases, but there is a high rate of postprocedural complications with all procedure types employed. Most complications are minor and manageable, but these can also impact case outcomes. Animals require long-term monitoring, as clinical signs may recur (in some cases, years after initial signs are reported to be resolved), and some animals may require long-term care to manage signs.
Topics: Humans; Animals; Panthera; Retrospective Studies; Eyelids; Managed Care Programs
PubMed: 37607678
DOI: 10.2460/javma.23.04.0203 -
Asian Journal of Surgery Oct 2022
Topics: Choristoma; Coloboma; Eyelids; Humans
PubMed: 35537908
DOI: 10.1016/j.asjsur.2022.04.087 -
Facial Plastic Surgery : FPS Apr 2016The 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... (Review)
Review
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.
Topics: Blepharoplasty; Coloboma; Eyelid Diseases; Eyelids; Humans; Muscle, Skeletal
PubMed: 27097135
DOI: 10.1055/s-0036-1581049 -
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 -
Orbit (Amsterdam, Netherlands) Apr 2023The use of eyelid switch flap in the correction of lower eyelid coloboma in a post-traumatic contracted socket is described. The lower eyelid, inferior fornix and...
The use of eyelid switch flap in the correction of lower eyelid coloboma in a post-traumatic contracted socket is described. The lower eyelid, inferior fornix and lateral canthus were successfully created in a single stage with a switch flap from the upper eyelid. A satisfactory cosmetic outcome and a stable fornix for placement of a custom ocular prosthesis was achieved.
Topics: Humans; Blepharoplasty; Eyelids; Surgical Flaps; Coloboma
PubMed: 34496729
DOI: 10.1080/01676830.2021.1974058 -
Ophthalmic Plastic and Reconstructive... Sep 2002To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions.
PURPOSE
To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions.
METHODS
Observational case series study. Twenty-six children (age range, one day after birth to 15 years old) were included in the study: 19 with upper eyelid coloboma, 4 with classic cryptophthalmos, and 3 with both eyelid coloboma and cryptophthalmos.
RESULTS
Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustardé classification). All cases of classic cryptophthalmos were sporadic and nonsyndromic. All patients with coloboma with facial deformities, cryptophthalmos, and both eyelid coloboma and cryptophthalmos had similar associated facial abnormalities.
CONCLUSION
Upper eyelid colobomas with facial deformities and cryptophthalmos can be considered as one anomaly. A new grading for this anomaly has been suggested. Grade 1: Coloboma without cryptophthalmos. Grade 2: Coloboma with abortive cryptophthalmos. Grade 3: Coloboma with complete cryptophthalmos. Grade 4: Classic cryptophthalmos (absence of all eyelid structures and the eye is completely covered with skin). Grade 5: Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip).
Topics: Adolescent; Child; Child, Preschool; Coloboma; Consanguinity; Cornea; Craniofacial Abnormalities; Eyelids; Female; Humans; Infant; Infant, Newborn; Male; Microphthalmos; Syndrome
PubMed: 12352825
DOI: 10.1097/00002341-200209000-00010 -
Scandinavian Journal of Plastic and... 2009The Arrhinias consist of three groups of malformations: the Total Arrhinias (T-AR), the Hemi-Arrhinias (H-AR, often called Hemi-Nasal Ageneses) and the Proboscis...
The Arrhinias consist of three groups of malformations: the Total Arrhinias (T-AR), the Hemi-Arrhinias (H-AR, often called Hemi-Nasal Ageneses) and the Proboscis Lateralis (P.L.) This work deals with 51 cases of Arrhinias gathered within 35 years (8 T-AR, 25 H-AR, and 18 P.L): their anatomy, clinical signs, and some indications for treatment; but it does not extend to a discussion for their etiopathology. However, the T-AR and the H-AR represent ageneses, whereas the P.L represents a dysgenesis. The anomalies common to the three groups of Arrhinias are many: the agenesis of the nasal bones, the telecanthus which is often in contrast to the hypo-telorbitism, the obstruction of the naso-lacrimal passage, the ectasia of the lacrimal sac with an erosion of the inferomedial angle of the orbit, the hypopneumatization of the maxillary sinus and a small maxilla, the unerrupted canines, the flattened fronto-nasal process, the obliteration of the cribriform plate, the dysplasia in the root of the eyebrows, the transverse hypoplasia of the upper lip, the frequency of microphthalmia, colobomas of the iris and nystagmus. Cleft lip and palate are frequently associated with the Arrhinias (see Table I) and also other facial malformations, but in different proportions, according to groups. They are: cryptophtalmias, eyelid coloboma, fronto-orbital encephalocele, agenesis of the premaxilla or prolabium, microtia. (See Table II) The basic principles of the treatment are the following: In the T-AR, a nasal passage should initially be bored through the maxilla, or there should be a displacement of the two halves of the mid-face by a procedure known as "facial bipartition". This nasal passage should be epithelialized and maintained wide open to the pharynx until the nasal construction. In the H-AR, it is sufficient to create an epithelialized passage through the curtain of bone where one would expect the pyriform rim to be and carry this passage through the septum into the contralateral nasal airway. Then, regardless of the type of arrhinia, the nasal construction is carried out with a forehead flap and bone grafts. The first grafts are either iliac or tibial, and subsequent ones are generally outer table calvarial grafts harvested from the parietal region. Later, there are further procedures: a maxillary advancement, a lengthening of the central midface, the final stages of the nasal construction, the elevation of the medial canthus, and the restoration of the infero-medial angle of the orbit (but rarely an efficient lacrimal drainage). The earliest stage for surgery can be debated. A strategy for treatment is suggested. Finally, 20 brief comments are made, which are as much questions asked concerning the three groups of arrhinia and their relationship with other centro-facial and latero-facial malformations.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Cleft Lip; Craniofacial Abnormalities; Ethmoid Bone; Female; Humans; Infant; Male; Maxillary Sinus; Nose; Nose Diseases; Orbit; Prognosis; Radiography; Plastic Surgery Procedures; Surgical Flaps; Treatment Outcome
PubMed: 19401938
DOI: 10.1080/02844310802517259