Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies.
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Adult↗
Biomedical subjects
J A Katowitz
Publications and source records attributed to J A Katowitz.
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.
Abnormalities, Multiple↗
Unilateral dermis-fat graft implantation in the pediatric orbit.
The purpose of this study was to evaluate the role of the dermis-fat 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.
Adipose Tissue↗
Oral mucous membrane grafts for corneal protection to permit prosthetic shell wear.
Conjunctival flaps are commonly used to cover the cornea in patients who otherwise can not tolerate a scleral shell. An alternative method of protecting the cornea, oral mucous membrane grafting, is described herein. Ten patients had oral mucous membrane grafting to the cornea. Patients ranged from 5 months to 47 years of age. Diagnoses included partial cryptophthalmia, microphthalmia, congenital orbital fibrosis syndrome, juvenile active ossifying fibroma, and trauma. All patients had poor visual function in the affected eye. Patients were either intolerant of scleral shell wear or had other contraindications to the use of a shell over an unprotected cornea. Following mucous membrane grafting (follow-up, 1-3 years), all patients were successfully fitted with prostheses and obtained good cosmetic results.
Adolescent↗
Prominent proptosis in childhood thyroid eye disease.
BACKGROUND: Orbital signs and symptoms occur in approximately one half of children with Graves disease, but the symptoms are usually minor and limited to the eyelids. Prominent proptosis is uncommon in children with this disorder. METHODS: Review of eight children with prominent proptosis associated with thyroid eye disease. Four patients were treated at the Children's Hospital of Philadelphia, the other four at the Columbia Presbyterian Medical Center. RESULTS: At initial presentation, children ranged in age from 3 to 16 years. There were five girls and three boys. Seven of eight children had hyperthyroidism at ophthalmic presentation. Four patients had restrictive myopathy, and all of the seven patients who underwent neuroimaging had extraocular muscle enlargement. Five patients were treated with lubrication. Two underwent orbital fat decompression. One patient had thyroid eye disease and myasthenia gravis. CONCLUSIONS: Proptosis in childhood thyroid eye disease usually is associated with a hyperthyroid state. The proptosis may be dramatic, but corneal exposure and restrictive myopathy are seen in only some of the patients. Neuroimaging shows enlarged extraocular muscles. Most children with this complication can be treated conservatively with topical lubrication, but orbital fat decompression may be considered in patients with more advanced conditions.
Adolescent↗
Results of dacryoscintigraphy in massage of the congenitally blocked nasolacrimal duct.
Between November 1990 and November 1993, 580 children with lacrimal outflow obstruction were examined at the Children's Hospital of Philadelphia. After excluding patients previously treated for nasolacrimal duct obstruction, we obtained a prospectively selected series of 20 children for this study. These patients underwent dacryoscintigraphy before and immediately after lacrimal sac massage to investigate the effect of external compression on fluid movement within the lacrimal outflow system. In 12 patients, tracer did not enter the lacrimal outflow system on the side(s) of obstruction. The absence of radiopharmaceutical correlated with clinical obstruction. In eight patients, tracer was noted to enter the lacrimal sac. After massage of the lacrimal sac, we observed progression of the tracer in five of the eight subjects. In these eight subjects, the pre- and postmassage tear column measurements showed a relative increase of 34.3%. Massage of eight clinically normal ducts showed a relative increase of 2.4% (p = 0.06). We conclude that progression of the tear column after lacrimal massage can be demonstrated on dacryoscintigraphy.
Child, Preschool↗
Tonic pupil and orbital glial-neural hamartoma in infancy.
PURPOSE/METHODS: Tonic pupils in early childhood are rare. We studied an otherwise healthy 31/2-month-old girl who had a right pupil that was poorly reactive to light, without other signs of oculomotor nerve palsy. RESULTS/CONCLUSIONS: Constriction of the right pupil after instillation of 0.125% pilocarpine eyedrops confirmed denervation hypersensitivity, consistent with a tonic pupil. There was no strabismus or proptosis. A magnetic resonance imaging scan demonstrated a right orbital mass, interposed between the lateral and inferior recti muscles. Biopsy was consistent with a benign, glial-neural hamartoma. Thus, in this young patient, a tonic pupil was associated with a benign orbital mass.
Child, Preschool↗
Congenital and acquired anophthalmia.
Anophthalmia is an absence of ocular tissue in the orbit. Important aspects in the diagnosis, evaluation, and treatment of both congenital and acquired anophthalmic patients are reviewed. Congenital and acquired anophthalmia differ in etiology, but many concepts of management can apply to either category. Specific steps in the evaluation and treatment including the proper timing for medical and surgical intervention will be discussed. The major goals for the ophthalmologist are to optimize motility and symmetry of the eyelids and orbit and coordinate efforts with other medical specialties.
Anophthalmos↗
Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.
The ocular findings and visual prognosis were reviewed in 24 patients with the Treacher-Collins syndrome who were evaluated in the craniofacial clinic in the Division of Pediatric Ophthalmology at Children's Hospital of Philadelphia between 1980 and 1991. All patients had some abnormality. Vision loss was present in 37% of patients. Amblyopia was present in 33%, significant refractive errors were present in 58%, and anisometropia was documented in 17%. Strabismus was present in 37% and significant lid and adnexal abnormalities were seen in 96%. The prognosis for normal vision in at least one eye is good but vision loss secondary to amblyopia is more resistant to treatment owing to other medical problems and social concerns.
Adolescent↗
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, Tenon's capsule, and conjunctiva.
Adult↗
Ocular and adnexal findings in patients with facial microsomias.
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.
Adolescent↗
Evaluation of a collagen/hydroxylapatite implant for orbital reconstructive surgery.
A variety of autogenous and alloplastic materials have been used to correct enophthalmos. Hydroxylapatite (HA), is a calcium-phosphate-based compound that has been extensively studied as a bone replacement material. We studied the properties of a new dense particulate form of HA in a collagen matrix (PFC/HA) implanted in the subperiosteal space of ten rabbit orbits for a period of 6 months. All animals were studied with pre- and postoperative computed tomography (CT) scans, and measurements of induced proptosis and implant volume were made. The proptosis induced by the implant averaged 2.2 mm and was stable over a 6-month period. Implant volume was constant throughout the study. Three-dimensional computer-generated images of the soft tissue, skeletal, and implant surfaces confirmed the implant stability. All animals were studied histologically with fluorochrome bone markers, which revealed minimal foreign body reaction to the implant, no evidence of infection, and marked fibrovascular ingrowth. We found the PFC/HA to possess properties that make it an ideal implant material: ease of availability, ease of handling, no resorption, minimal immunogenicity, infection resistance, no observed migration, biointegration, and no risk of disease transmission. PFC/HA may make an excellent implant material to manage orbital volume.
Animals↗
Canalicular obliteration from toxic epidermal necrolysis.
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Adult↗
The ophthalmic manifestations and treatment of the amniotic band syndrome.
The amniotic band syndrome is an unusual cause of craniofacial deformities. The syndrome, which is initiated by rupture of the amnion, results in an unpredictable combination of compression deformities of the fetus, construction or amputation defects of the extremities, and craniofacial clefting deformities. The type and extent of ophthalmic abnormalities are dependent on the band location and timing. They include a combination of bony orbital clefts or hypertelorism; lid anomalies such as colobomas, ptosis, and ectropion; lacrimal outflow obstruction; and globe involvement. We review the clinical course of 14 patients diagnosed with, or suspected as having, this syndrome and describe the methods of treatment. In most instances, multiple surgical procedures were required to restore function. Satisfactory cosmesis proved more difficult to obtain.
Amniotic Band Syndrome↗
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 Children's 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.
Age Factors↗
Ocular and adnexal complications of unilateral orbital advancement for plagiocephaly.
Strabismus, ptosis, lateral canthal dystopia, nasolacrimal obstruction, and cranial nerve palsy were noted preoperatively in 32%, 21%, 14%, 12%, and 9% of 34 patients, respectively, undergoing ophthalmologic evaluation prior to unilateral orbital advancement for plagiocephaly. Thirty-two percent of the patients had normal preoperative ocular and adnexal examination results. Ptosis, strabismus, and amblyopia were frequently acquired postoperative abnormalities in 29%, 18%, and 18% of the patients, respectively. Forty-four percent of the patients had no new abnormalities following craniofacial surgery.
Child↗
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 Children's 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.
Child, Preschool↗
Three-dimensional computed tomographic imaging.
Recent developments in imaging techniques now allow reconstruction of actual three-dimensional images from computed tomographic data. This article discusses the basic concepts involved in three-dimensional imaging and reviews its potential as a diagnostic and management tool for the clinical ophthalmologist. New computer techniques allow review of actual three-dimensional images in both static and dynamic formats. This can allow the clinician to define more accurately a normal and pathologic anatomy involving skeletal structures in particular.
Eye Diseases↗