Nasopalpebral lipoma–coloboma syndrome is an autosomal dominant syndrome characterized by congenital upper eyelid and nasopalpebral lipomas, upper and lower eyelid colobomas, telecanthus, and maxillary hypoplasia. Ours is the third report of this dysplasia-malformation syndrome and the first report in the ophthalmic literature.
This rare syndrome was first described in a Venezuelan family1 and later in a Turkish family.2 Our patient is the proband for the third family reported with this dysplasia-malformation syndrome and the first with reported computed tomographic findings.
The patient was a full-term male newborn, born at 39 weeks gestation to a 36-year-old, gravida 2, para 2 mother. The patient's mother had received good prenatal care and denied tobacco, alcohol, or other drug use during her pregnancy. The patient was delivered via spontaneous vaginal delivery with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Oxygen was administered for 2 minutes following birth, after which the patient did well on room air. Birth weight was 3.3 kg; birth length was 42.3 cm.
At delivery, the patient was noted to have anomalous facial features. The parents denied any family history of similar findings. An older sibling at home was noted to be healthy.
On physical examination, the patient was alert, crying, and moving all extremities spontaneously. There were no signs of acute distress or neurologic impairment. The nares were patent bilaterally. The patient's palate was intact and he had a single, midline uvula.
Ophthalmologic consultation was obtained at 1 day of age. Marked telecanthus and large, bilateral upper eyelid colobomas at the junction of the medial one third and lateral two thirds of the eyelids were noted (Figure 1). Lacrimal puncta and canaliculi were absent from the upper eyelids bilaterally. Both lower eyelid puncta were patent and in the normal position. Pupils were equal, round, and reactive; no afferent pupillary defect was present. Penlight examination of the anterior segment and dilated fundus examination results were within normal limits in both eyes. No corneal stain or opacity was present. The patient was noted to have a flat, wide nasal bridge with a soft, raised mass located between the eyes and involving the medial aspect of both upper eyelids. The rest of the physical examination results were unremarkable.
Ten-day-old male newborn showing anomalous facial features including marked apparent hypertelorism, bilateral upper eyelid colobomas, a broad nasal bridge, and bilateral nasopalpebral lipomas.
Computed axial tomography with 3-dimensional reconstruction revealed a normal brain structure. Evaluation of the bony anatomy disclosed normal intraorbital distance, prominent sutures in the anterior fontanelle, and mild maxillary hypoplasia. Lipomatous tissue involving the forehead and nasal bridge was noted (Figure 2).
Computed axial tomographic scan of the patient showing normal intraorbital bony distance. There is lateral displacement of the globes within the orbits as a result of the upper eyelid and nasopalpebral lipomas (arrow indicates lipomatous tissue). The brain structure and ventricles are normal.
A hearing test including otoacoustic emissions and auditory brainstem response had normal results. Cytogenetic studies showed no evidence of a chromosome abnormality. It was felt that the patient's craniofacial dysmorphism had resulted from a spontaneous mutation.
At 10 days of age, the patient underwent exploration of the lacrimal drainage systems and repair of the bilateral upper eyelid colobomas. Inspection of both upper lids failed to reveal any remnants of the lacrimal puncta or canaliculi. Probing of the lower puncta revealed normal anatomy on the right side, while a soft tissue density was noted at the level of the common canaliculus on the left. Full-thickness tissue was then excised along all aspects of the coloboma to create fresh edges and a pentagonal-shaped defect. There was no tarsal remnant medially in either eyelid. The lateral tarsal remnant was normal. The defects were closed primarily, with several sutures placed between the tarsal remnants and the remnants of the medial canthal ligament to support the posterior lamella. The coloboma on the left was more lateral than that on the right, with greater deformity of the medial canthal region, resulting in a slightly abnormal contour of the reconstructed upper eyelid. The contour on the right side was more natural.
At 5 months of age (Figure 3), the patient underwent transcoronal excision of the forehead, nasal, and bilateral upper eyelid lipomas as well as transnasal bilateral medial canthopexy. The lipomatous tissue was subcutaneous in the forehead and extended into the eyelids and medial canthus in a preseptal plane; it was discrete from the orbital fat. The punctae were again probed bilaterally at the time of this surgery and the lower canaliculi were found to be intact. However, no nasolacrimal duct remnants could be found. No discrete medial canthal tendons were visible, but there was dense tissue in the medial aspect of the lower eyelids which was felt to be of adequate strength to undergo a medial canthopexy. Two 1.0-mm holes were drilled anterior to the anterior lacrimal sac. A 30-gauge wire was passed through the holes to the dense tissue of the lower eyelids on each side and tightened to bring the medial canthi further medially and correct the pseudohypertelorism. This resulted in excess skin in the lateral nasal wall area, but it was decided not to excise this so that the blood supply of the skin flap would not be compromised. Figure 4 shows the patient at 1 year of age, 7 months after surgery.
The patient at age 5 months after bilateral upper eyelid coloboma repair, before undergoing excision of the bilateral nasopalpebral lipomas.
The patient at age 12 months, 7 months after transcoronal excision of frontal, nasal, and bilateral palpebral lipomas as well as transnasal bilateral medial canthopexy.
Complete ophthalmic examination by a pediatric ophthalmologist at 11 months of age showed good fixation and following in each eye with variable intermittent right exotropia, up to 30 prism diopters, at distance and near. A small amplitude jerk nystagmus with a latent component was noted. The patient was unable to abduct the left eye past the midline. Adduction could not be adequately evaluated due to the large nasal skin folds overlying the nasal conjunctiva. The right upper eyelid was mildly ptotic, with the right upper eyelid margin resting 2 mm above the mid-pupil. An increased tear lake was noted in both eyes. Cycloplegic refraction showed +5.00 +2.00 × 075 OD and +4.50 +1.75 × 105 OS. Glasses were prescribed, but the patient did not tolerate glasses well. Part-time occlusion of the left eye was performed with consistency. At 16 months, exotropia was not elicited on examination. The patient's parents were advised to continue part-time occlusion of the left eye.
Future management of this patient will include further surgical repair of his telecanthus, nasolacrimal duct reconstruction, and continued follow-up for strabismus and amblyopia.
The similarities between the examination results of this patient and those of the previously reported cases of nasopalpebral lipoma–coloboma syndrome are striking. Penchaszadeh et al1 described 8 affected individuals from 1 family in Venezuela, while Akarsu and Sayli2 later reported 7 similarly affected patients in 3 generations of a Turkish family. The syndrome was described as an autosomal dominant condition with congenital lipomas symmetrically present under the upper eyelid and nasopalpebral skin, giving rise to marked telecanthus. Eyelid colobomas were bilateral and symmetric, involving both upper and lower eyelids in the majority of cases. However, 1 patient in the Penchaszadeh et al series had only bilateral upper eyelid colobomas, similar to our patient. All patients described by Penchaszadeh et al had marked exotropia and a few patients had corneal or anterior subcapsular lens opacities. Fundus examination results were normal. Visual acuity tested in 2 adult patients was reported to be within normal limits or consistent with other ocular findings (cataracts and exotropia). Skull x-ray films showed normal intraorbital distances and midface hypoplasia, which our patient also exhibited.
Other syndromes which are associated with eyelid colobomas include Goldenhar syndrome,3 Treacher-Collins syndrome,3,4 frontonasal dysplasia,5,6 Delleman syndrome,7 and a new, unnamed syndrome described by Balci et al consisting of upper eyelid coloboma, hypertelorism, hypospadias, and mixed-type hearing loss.8 Defining features of these syndromes include preauricular appendages, epibulbar dermoid, and vertebral abnormalities (Goldenhar syndrome); orbital hypertelorism, nasal tip bifidity, and median facial cleft (frontonasal dysplasia); orbital cysts, agenesis of the corpus callosum, and punch-like defects of the lip, philtrum, and nose (Delleman syndrome). Our patient did not exhibit any of these other key findings.
The pathogenesis of eyelid colobomas is not well understood since normal eyelid development does not produce clefting. It is possible that interference in the epithelial adhesion of the eyelid folds during gestation may cause maldevelopment of the eyelid and associated structures.1 Alternatively, it has previously been postulated that central defects such as disturbances in the migration of neural crest cells may produce symmetric eyelid colobomas such as those seen in Treacher-Collins syndrome.4
The findings in this report were thought to be consistent with nasopalpebral lipoma–coloboma syndrome, an autosomal dominant dysplasia-malformation syndrome previously reported in 2 families in the genetics literature. We believe this patient is the proband for the third reported family of this rare dysplasia-malformation syndrome and the first case of nasopalpebral lipoma–coloboma syndrome reported in the ophthalmic literature thus far.
Corresponding author: David B. Lyon, MD, Department of Ophthalmology, The Eye Foundation of Kansas City, 2300 Holmes, Kansas City, MO 64108.
Bock-Kunz AL, Lyon DB, Singhal VK, Grin TR. Nasopalpebral Lipoma–Coloboma Syndrome. Arch Ophthalmol. 2000;118(12):1699-1701. doi: