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Acquired corneal ulceration in a neonate with Goldenhar's syndrome managed by modified Cutler-Beard procedure
Abstract
• Acquired corneal ulceration in a neonate is not common. An infant with Goldenhar syndrome had a large central defect in his left upper eyelid, and developed corneal ulceration in the neonatal period. This case report documents the management of a case with the modified Cutler-Beard procedure, which was performed as an emergency procedure after conservative measures failed to heal the ulcer.
Two patients with Goldenhar syndrome developed corneal ulcers. Previous acid burn of the cornea and prolonged topical corticosteroid administration occurred in Patient 1. Predisposing ocular anomalies in patients with Goldenhar syndrome include corneal hypesthesia; keratoconjunctivitis sicca, and exposure secondary to eyelid colobomas, lacrimal gland and duct anomalies, dermoids and lipodermoids, and neurologic deficits. Serious ocular morbidity may be prevented by searching for and adequately treating these predisposing factors. It is possible that embryonic events contribute to ocular complications in Goldenhar syndrome, in part, by causing hypoplasia or abnormal function of the trigeminal and facial nerves.
The authors reviewed the ocular findings in 49 patients with facial microsomias not considered part of a known syndrome. Five patients had bifacial microsomia, and 44 patients had hemifacial microsomia. These patients were evaluated in the Craniofacial Clinic in the Division of Pediatric Ophthalmology at Children's Hospital of Philadelphia between the years 1979 and 1989. Ocular or adnexal abnormalities were present in 67% of patients. Visual loss was present in 8% of eyes. Amblyopia was present in 16% of patients. Significant refractive errors were present in 27% of patients, and anisometropia was documented in 8%. Strabismus was present in 22% of patients, and significant lid and adnexal abnormalities were seen in 41%. Because ocular or adnexal findings present in a significant percentage of patients with more mild forms of facial microsomias, regular examinations to uncover and treat these abnormalities are recommended.
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 eyelid colobomas are a partial or total absence of eyelid structures. The degree of severity determines the surgical techniques employed for repairing the eyelid. We feel that early surgical treatment reduces the risk of ocular scarring with satisfactory results.
We present four cases of congenital upper eyelid colobomas of differing severity and discuss surgical approaches to these lid abnormalities.
Purpose:
We studied a case of corneal ulceration in utero from lower eyelid entropion.
Methods:
A 3-week-old male infant was referred for examination of a left corneal ulcer that was present at birth and unresponsive to antibiotics.
Results:
Examination disclosed a lower eyelid entropion that was treated surgically by a nonincisional method, leaving a central leukoma after re-epithelialization.
Conclusion:
Congenital lower eyelid entropion should be included in the differential diagnosis of congenital corneal opacities.
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.
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.
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.
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.
The oculo-auriculo-vertebral (OAV) spectrum is an etiologically heterogeneous condition classically consisting of microtia, hemifacial microsomia, epibulbar dermoids, and vertebral anomalies. Other eye findings described in OAV include upper eyelid colobomas, ptosis, and varying degrees of microphthalmia or even anophthalmia. Iris and/or retinal colobomas have rarely been reported. We describe two familial cases of apparent OAV with ocular colobomas. We postulate that iris and/or retinal colobomas associated with OAV may represent a subgroup within the OAV spectrum with autosomal dominant inheritance, as in the families described herein. Since microtia can result from aberrant migration of neural crest cells into the first and second branchial arches during early embryonic development, and concomitant deficient neural crest migration into the developing eye can lead to ocular coloboma and or iris heterochromia, it may be that the altered gene or genes in our familial cases are involved with regulation of neural crest development.
Congenital tarsal kink is a rare condition. The folded edge of the upper tarsus, or the inturned lashes, may traumatize the cornea causing ulceration. We describe a case of unilateral upper eyelid horizontal tarsal kink associated with distichiasis and congenital corneal ulceration. Several different surgical treatment options have been previously alluded to in the literature including lamellar tarsoplasty, full-thickness eyelid fracture, and rotation and excision of the kink with tarsal reapposition. Repair by means of eyelid everting sutures via an anterior lamellar approach is presented as a novel technique to correct this congenital anomaly.
A child with Goldenhar's syndrome, bilateral choroidal colobomas, and a morning glory anomaly of the optic disk in one eye is described. Bilateral posterior segment anomalies associated with Goldenhar's syndrome are rare. An association between the morning glory anomaly and Goldenhar's syndrome has not been previously reported.