James A. Katowitz

TIMING OF INITIAL PROBING AND IRRIGATION IN CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

A series of 427 patients with congenital dacryostenosis involving 572 eyes was seen at the Childrens Hospital of Philadelphia. All patients were treated conservatively with antibiotics and massage prior to decision by the parents to request probing. Congenital dacryostenosis, as well as resolution of symptoms, were confirmed by clinical examination and use of a modified dye disappearance test. In 572 eyes, the success rate of initial probing was found to be 97% under 13 months of age. Over 13 months, however, the mean success rate was found to be 54.7%. When broken down into smaller age categories, a stepwise progression was observed from 76.4% between 13 and 18 months to 33.3% for patients probed after 24 months. In addition, the number and complexity of subsequent procedures appeared to increase along with the age at which the initial probing was performed. These data suggest that initial probing should be done prior to 13 months of age depending on the severity of symptoms and parent compliance with medical management.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation : Pfeiffer syndrome type III

We present a patient with pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal non-rotation, and severe developmental delay. His skeletal abnormalities include bilateral elbow ankylosis, radial head dislocation, and unilateral broad and deviated first toe. The phenotype of this patient is consistent with that previously reported in Pfeiffer syndrome type III, but is unusual for the lack of broad thumbs. Our patient most closely resembles the case described by Kerr et al. [1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs. Mutations in the genes for fibroblast growth factor receptors (FGFR) 1 and 2 have previously been seen in patients with Pfeiffer syndrome type I. The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III. An identical mutation was described once previously by Pulleyn et al., in a patient whose brief clinical description included cloverleaf skull, significant developmental delay, and normal hands and feet [Eur. J. Hum. Genet. 4: 283-291, 1996]. In our patient, previously performed single-strand conformation polymorphism analysis failed to detect a band shift; the mutation was identified only after independent sequence analysis.

The surgical management of orbitofacial dermoids in the pediatric patient

Orbitofacial dermoids in the pediatric population represent a diverse group of lesions. Because of their variability in both clinical presentation and contiguous structure involvement, a thorough understanding of their surgical-pathologic anatomy is imperative. In this retrospective review of 84 lesions in 84 patients, we noted segregation of the lesions into three distinct subgroups: brow region dermoids, orbital region dermoids, and nasoglabellar dermoids. Further, we identified physical characteristics within each subgroup that appeared to direct diagnostic workup and subsequent surgical intervention. From this experience, a treatment algorithm was developed that gives the practitioner more precision in the management of these lesions.

Timing of Silastic tubing removal after intubation for congenital nasolacrimal duct obstruction.

One thousand five hundred twenty-one patients (2,038 eyes) with congenital nasolacrimal duct obstruction were reviewed at The Childrens Hospital of Philadelphia. Of these, 174 patients with congenital dacryostenosis involving 192 eyes underwent polymeric silicone (Silastic) intubation to treat the dacryostenosis. All patients had undergone at least several months of conservative management consisting of topical antibiotics and massage. All had undergone at least one probing and irrigation. Congenital dacryostenosis as well as resolution of symptoms were confirmed by clinical examination and use of a modified dye disappearance test. In 192 eyes the overall success rate was 83.33%. When broken down into age group, progression of success rates were from 100% in the 6–13-month age group to 79.6% in the over 24-month age group. Success rates differed significantly according to how long the Silastic tubing remained in position, especially in older age groups. The data suggest that Silastic intubation is a successful means of treating congenital dacryostenosis and that one should consider leaving the silastic in place for 6 months when possible.

Congenital craniofacial anomalies of ophthalmic importance

Congenital craniofacial abnormalities frequently require ophthalmic evaluation and surgical management. Called upon to perform as part of the craniofacial team managing the often severely deformed craniofacial patient, the ophthalmologist must bring a basic knowledge of craniofacial syndromes and developmental anatomy, as well as clinical acumen to help preserve or improve ocular and adnexal function. As an introduction to this area of ophthalmology, the clinical features, classification, appropriate facial embryology, assessment and surgical considerations of the various congenital craniofacial abnormalities are reviewed. The expanding availability of craniofacial surgeons and surgical teams along with improved surgical results will ultimately require an increasing involvement by many more ophthalmologists in the evaluation and management of these congenital abnormalities.

Variations in Extraocular Muscle Number and Structure in Craniofacial Dysostosis

Five of 12 patients with craniofacial dysostosis who needed strabismus surgery had anomalies of extraocular muscle structure and number. Two cul-de-sac incisions per eye are sufficient to investigate all muscles for anomalies and add little time or risk to the planned strabismus procedure. The origin of these anomalies and their frequency in craniofacial stenosis are unknown.

A controlled study of topical 0.25% timolol maleate gel for the treatment of cutaneous infantile capillary hemangiomas.

Purpose: To evaluate the efficacy of topical 0.25% timolol maleate gel for the treatment of cutaneous infantile capillary hemangiomas. Methods: A retrospective, consecutive, nonrandomized, comparative single-masked cohort study of all patients presenting with nonvision-threatening periocular infantile capillary hemangiomas between August 2007 and January 2011 was performed. Parents chose twice daily topical 0.25% timolol maleate gel or observation. Photographs were taken at all visits and subsequently evaluated by masked examiners for change in lesion size, color, and thickness. Lesions were clinically defined as superficial, mixed, or deep. The primary outcome was response to treatment at 2 months, categorized as good (size decreased >50%), moderate (decrease 0–50%), or poor (enlarged or caused visually significant ptosis or induced astigmatism). The secondary outcome was response at latest follow-up visit. Results: Thirteen children received timolol, and 10 children were observed, with mean ages at presentation of 4.8 and 3.7 months (p = 0.31), respectively. In the treated group, good response was observed in 8 (61.5%) infants, moderate response was seen in 4 (30.8%), and poor response was seen in one patient (7.7%). In the observed group, 0 (0%) demonstrated good response, one (10%) demonstrated moderate response, and 9 demonstrated poor response (90%) (p < 0.001). Responses were consistent on long-term follow-up (range 3–41 months). Both superficial (n = 5; 100% good response) and mixed (n = 7; 43% good, 57% moderate) lesions responded well to timolol; the one deep lesion did not. No adverse ocular or systemic effects were observed. Conclusions: Topical timolol maleate gel 0.25% is effective in treatment of nonvision-threatening infantile capillary hemangiomas with a superficial component. Response at 2 months is stable over time.

Congenital Unilateral Fibrosis, Blepharoptosis, and Enophthalmos Syndrome

The authors report four cases of the rarest form of the congenital fibrosis syndrome. This disorder is exhibited in infancy as unilateral blepharoptosis, strabismus, limited ductions, globe displacement (enophthalmos and blepharoptosis), and decreased vision, usually due to amblyopia. Forced ductions are positive and surgical exploration confirms anomalous muscle structure. Computed tomography and magnetic resonance imaging studies in these four patients were diagnostically beneficial, showing extraocular muscle and tendinous insertion involvement, and poorly defined intraconal and extraconal masses that had the appearance of scar or inflammatory tissue. All patients had globe displacement. The opposite eye and intracranial contents were normal in all of our patients. Results of histopathologic examination obtained at surgery in three of these patients show replacement of affected structures by fibrous tissue and included the extraocular muscles, orbital fat, Tenons capsule, and conjunctiva.

Unilateral dermis-fat graft implantation in the pediatric orbit.

The purpose of this study was to evaluate the role of the dermisfat graft (DFG) as an orbital implant in the pediatric age group. A retrospective study was made of a series of 16 patients who had undergone unilateral orbital implantation of a DFG. The ages of the patients at the time of surgery ranged from 2 months to 17 years, with followup ranging from 2 to 15 years. Growth of the graft was clinically apparent in the younger children. Increasing proptosis required surgical debulking of the graft in six of eight children who were 4 years old or younger at the time of DFG implantation. None of the eight children who were 9 years or older at the time of DFG implantation required surgical debulking. Indeed, five of the older patients demonstrated some degree of graft atrophy. Dermis-fat grafts placed in the orbits of young children appear to grow after implantation. This growth of the implant may help stimulate orbital growth, potentially leading to more symmetry between the involved and uninvolved sides.