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The natural history of epiphora in childhood.

PURPOSE: To investigate the incidence and aetiology of epiphora in a population of 7-year-old children and determine whether a conservative management policy for congenital nasolacrimal duct obstruction (CNLDO) results in excess lacrimal dysfunction in later childhood. METHODS: A postal questionnaire was sent to the parents of a large cohort of 7-year-old children previously investigated to determine the incidence and natural progression of CNLDO. They were asked about the presence of epiphora, and its relationship to atopic disease and the presence of upper respiratory tract infections (URTI). Information on epiphora had also been gathered from the same cohort at age 3 1/2 years at a routine examination. Data were compared with those for epiphora in infancy in the same cohort. RESULTS: The incidence of epiphora at 3 1/2 years was 5.5%, and 7 years 7.7%. At age 7 years 70% of cases were related to atopic disease or URTI. CNLDO was not significantly related to epiphora in later childhood (p = 0.000032). CONCLUSIONS: A policy of delaying nasolacrimal probing in CNLDO until after the age of 1 year does not result in a detectable excess of lacrimal dysfunction in later childhood, when epiphora is more likely to be related to atopic disease or upper respiratory tract infection.

Age Factors↗

Lacrimal drainage capacity and symptomatic improvement after dacryocystorhinostomy in adults presenting with patent lacrimal drainage systems.

AIM. To determine the rate of symptomatic improvement after dacryocystorhinostomy (DCR) in patients with epiphora and insignificant obstruction to preoperative lacrimal syringing, and to measure the conductance of the postoperative lacrimal drainage anastomosis. METHODS. Retrospective cohort study of patients with symptomatic epiphora and patent tear ducts, with at least two-year follow-up after DCR. Patients underwent structured telephone interview together with clinical examination for lacrimal drainage capacity using the saline drop test.(1) RESULTS. Thirty-seven of 383 adult patients having had DCR were noted to have patent tear ducts at preoperative examination. Ten patients with previous surgery were excluded and two other patients were excluded because of other factors contributory to epiphora. Of the remaining 25 patients, 22 (aged 35-75 years at surgery; median 56 years) underwent a structured telephone interview: Of the 13 (60%) who felt that symptoms had improved, 9 (41%) were relieved of indoor epiphora and 11 (50%) thought the procedure was an overall success. Seventeen patients underwent clinical examination. The lacrimal drainage anastomosis was patent in all patients and the saline drop test result was well within the normal range in 3/4 patients who had persistent indoor epiphora. CONCLUSION. Of patients with epiphora due to minor nasolacrimal duct stenosis, open DCR produces a marked improvement or cure of symptoms in 50%. The lacrimal drainage capacity was well within the normal range in 3/4 patients with persistent postoperative lacrimal symptoms, suggesting that other factors (such as hypersecretion) may be significant in this group of patients with 'functional block'.

Journal Article↗

Mucosal morbidity in patients with epidermolysis bullosa acquisita.

BACKGROUND: Epidermolysis bullosa acquisita is an acquired inflammatory and/or dermolytic subepidermal blistering disease characterized by IgG autoantibodies to type VII collagen. Four patients with documented epidermolysis bullosa acquisita were evaluated by a multidisciplinary team of care providers (4 dermatologists, an ophthalmologist, a radiologist, a voice and speech specialist, and an otolaryngologist) for 1 to 5 years to characterize mucosal involvement and its complications and response to treatment. Patients were evaluated clinically and by slitlamp examinations, endoscopies, computed tomographic scans, and videofluorographic swallowing studies. Spiral computed tomographic scans for virtual endoscopy were used for the nontraumatic evaluation of airways in 2 patients with respiratory tract compromise. OBSERVATIONS: Involvement of 5 or more mucosal sites--mouth, nose, conjunctiva, pharynx, and larynx--was documented in all patients. Complications included ankyloglossia, periodontal disease, scarring and crusting of nasal mucosa, symblepharon formation, obstruction of nasolacrimal ducts, deformation of the epiglottis, impaired phonation, dysphagia, esophageal strictures, and supraglottic stenosis requiring emergency tracheostomy. CONCLUSIONS: Epidermolysis bullosa acquisita may extensively (or predominantly) affect mucosal epithelia in a manner resembling cicatricial pemphigoid. Mucosal disease in these patients is often subclinical, can lead to serious complications, and is best managed using a multidisciplinary approach.

Adult↗

Development of tearing in preterm and term neonates.

BACKGROUND: Although term and preterm infants have the capacity to secrete tears, the relative contribution of basal and reflex secretion of tears has not been previously assessed together in a prospective study. This information potentially has practical clinical importance. OBJECTIVES: To measure basal and reflex tear secretion in preterm (30-37 weeks after conception) and term (38-42 weeks) newborns and to determine the developmental pattern of tear production. METHODS: Tear secretion was evaluated by applying Schirmer tear test strips to the inferior fornix for 5 minutes before (reflex plus basal secretion) and after (basal secretion) applying a topical anesthetic agent. RESULTS: Seventy infants (36 preterm and 34 term) were tested. Mean (+/- SD) basal tear secretion was 6.2 (+/- 4.5) mm in preterm and 9.2 (+/- 4.3) mm in term infants and increased progressively with increasing weight (P<.001) for all newborns. Mean (+/- SD) reflex tear secretion was 7.4 (+/- 4.8) mm in preterm and 13.2 (+/- 6.5) mm in term infants and also increased with increasing weight (P<.001) for all newborns. CONCLUSIONS: Preterm infants have reduced reflex and basal tear secretion. This may mask the diagnosis of a nasolacrimal duct obstruction, concentrate topically applied medications, and allow corneas to quickly become dry during ophthalmological examination and treatment. By term, tear production in newborns is similar to that in adults.

Diagnostic Techniques, Ophthalmological↗

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.

OBJECTIVE: To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings. METHODS: Fifty-four patients with Cornelia de Lange syndrome (26 mutation positive and 28 mutation negative) with varying extent and severity of ophthalmologic findings participated in the study. We conducted a retrospective analysis of ophthalmologic data obtained through survey responses and medical records. The severity of nasolacrimal duct obstruction, myopia, ptosis, and strabismus was classified. The severity of eye findings was compared relative to the presence vs the absence of mutations in the coding region of NIPBL and relative to mutations predicted to result in a truncated protein (nonsense and frameshift mutations) vs missense mutations. Fisher exact test was used to determine the significance of these correlations. RESULTS: A trend toward increased ptosis severity was found among individuals with truncating (nonsense and frameshift) mutations compared with individuals with missense mutations (P = .07). CONCLUSION: NIPBL may be directly involved in ptosis pathogenesis. CLINICAL RELEVANCE: Elucidating the pathogenetic mechanisms of ophthalmologic morbidities in patients with de Lange syndrome may lead to more effective treatment.

Adolescent↗

Marginal corneal ulcer due to beta-streptococcus.

A 72-year-old woman with a low-grade nasolacrimal duct obstruction developed a hyperacute conjunctivitis caused by beta-hemolytic streptococci. This condition has been termed "conjunctivitis of Morax". An unusual feature consisting of a large, marginal furrow-like corneal ulcer was noted associated with a plastic iritis. The condition improved with the use of topical erythromycin, irrigation of the lacrimal sac with aqueous penicillin and oral penicillin. We believe that the marginal corneal ulcer was an actual infection of the corneal stroma resulting from the intense conjunctival chemosis trapping the exudate between the conjunctiva and the corneal epithelium, thus causing a breakdown of the corneal epithelium and allowing the organism to gain access to the stroma. Conjunctivitis of Morax can be clinically differentiated from a conjunctivitis associated with pneumococcal dacryocystitis and from the acute and hyperacute purulent conjunctivis due to infection with Neisseria.

Aged↗

Silicone tube intubation of the lacrimal drainage system.

We report 158 silicone tubes placed in the lacrimal drainage systems in 150 patients. Intubation is indicated in the following: congenital nasolacrimal duct obstruction, fresh canalicular lacerations, primary canalicular disease, complicated dacryocystorhinostomies, canaliculorhinostomies, and failed dacryocystorhinostomies. The procedure may be useful prophylactically before surgery or radiation of the medial canthal region.

Adolescent↗

Congenital dacryocystocele.

Four cases of congenital lacrimal sac distention were managed in an initially conservative manner to further elucidate the natural history of the condition and to formulate a more systematic approach to its treatment. In three cases, the abnormality resolved without nasolacrimal duct probing, with no adverse sequelae. In one case, dacryocystitis caused by Serratia marcescens, corneal astigmatism, and severe canthal distortion prompted surgical intervention. The management of individual cases of dacryocystocele should be influenced by the presence of inflammation, the virulence of any infecting organisms, the induction of astigmatism and anisometropia, and the degree of canthal distortion. Dacryocystocele appears to be a more specific term for lacrimal sac distention than either amniotocele or mucocele, and is not restricted to only one source of its fluid contents.

Cysts↗

Treatment of neonatal conjunctivitis.

The effect of different treatment regimens on clinical and microbiologic cures of neonatal conjunctivitis was evaluated during a 32-day observation period. In 84 infants with mild to moderate conjunctivitis and no signs of dacryocystitis, clinical cures were achieved in more than 50% of the cases with lid hygiene only. Staphylococcus aureus was the most common organism (48%) isolated from these infants. Chlamydia trachomatis could not be isolated from eyes with mild to moderate conjunctivitis. Forty-four infants with severe conjunctivitis, with or without dacryocystitis, were randomly assigned to treatment with either topical chloramphenicol or oral erythromycin for 14 days. Chlamydia trachomatis was isolated from 19 (43%) of these infants. All infants with chlamydial conjunctivitis who were treated with 25 mg/kg of oral erythromycin ethylsuccinate twice daily for 14 days were clinically and microbiologically cured. In contrast, all treatment of chlamydial conjunctivitis with topical chloramphenicol failed clinically as well as microbiologically. Dacryocystitis was a common complication in neonatal conjunctivitis (17%). The clinical failures in neonatal nonchlamydial conjunctivitis were associated with persistent obstruction of the nasolacrimal duct.

Administration, Oral↗

Xerophthalmia and cystic fibrosis.

We treated two infants with failure to thrive who presented with clinical evidence of conjunctival and corneal xerosis. One patient was referred with possible infectious corneal ulcer thought to exist because there were deep peripheral ulcerations of the cornea and associated hypopyon. The other patient was initially thought to have a nasolacrimal duct obstruction because of excessive tearing. Xerophthalmia secondary to vitamin A deficiency was suspected and led to the diagnosis and treatment of cystic fibrosis in each case. Therapy with vitamin A promptly resolved the xerosis, but it also caused a transient rise in intracerebral pressure. Xerophthalmia can still be a problem in developed countries when underlying disorders, such as cystic fibrosis, lead to vitamin A malabsorption.

Cystic Fibrosis↗

Rectal atresia as rare manifestation in EEC syndrome.

A newborn boy presented with bilateral split hand/foot malformation, sparse hair, dry and scaly skin, and nasolacrimal duct obstruction. Despite absence of cleft lip or palate, the findings fit the EEC syndrome. Additionally, the boy had rectal atresia. At least six further patients with EEC syndrome and anal atresia (two published, four unpublished) demonstrate, that anorectal malformation is a further, but rare anomaly in EEC syndrome.

Abnormalities, Multiple↗

Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.

In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (BOR) syndrome (MIM 113650). Although the BOF and BOR syndromes are sufficiently distinctive that they should not be confused, both can be associated with nasolacrimal duct stenosis, deafness, prehelical pits, malformed pinna, and renal anomalies. Furthermore, a reported father and son [Legius et al., 1990, Clin Genet 37:347-500] had features of both conditions. It was not clear whether they had an atypical presentation of either BOR or BOF syndrome, or represented a private syndrome. In light of these issues, we selected the BOR locus (EYA1) as a possible gene mutation for the BOF syndrome. In five BOF patients, there were no mutations detected in the EYA1 gene, suggesting that it is not allelic to the BOR syndrome.

Branchio-Oto-Renal Syndrome↗

A new form of hypohidrotic ectodermal dysplasia.

We report on a 17-yr-old young woman with an apparently new tricho-onycho-hypohidrotic ectodermal dysplasia. The manifestations include primary interdigital webbing, contractures of fingers and toes, conjunctivitis from narrowing of nasolacrimal ducts, and a small cortical opacity in the lens of the left eye. Psychosocial problems due to the cosmetic appearance are severe. Cause is uncertain.

Abnormalities, Multiple↗

A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.

We report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrimal duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire-Maia as the odontotrichomelic syndrome; the differential diagnosis between this syndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.

Abnormalities, Multiple↗

Agenesis or hypoplasia of major salivary and lacrimal glands.

We described a young man with almost total absence of the parotid glands, hypoplasia of both lacrimal glands, marked hypofunction of both submandibular glands, and left nasolacrimal duct atresia. Lack of tearing, severe dental caries, and conjunctival scarring following chronic xerophthalmia and conjunctivitis serve to alert pediatricians to this autosomal dominant disorder with considerable variation in expressivity.

Abnormalities, Multiple↗

Nasal mass in a pediatric patient.

The consultants agreed that the differential diagnosis should focus on congenital masses, including an encephalocele, glioma, dermoid, hamartoma, hemangioma, rhabdomyosarcoma, neurofibroma, and nasolacrimal duct cyst. There was some disagreement as to which is the best way to evaluate the mass, ranging from an MRI (Dr. Reilly), to CT scan (Dr. Cotton), to both MRI and CT (Dr. Koopman). Blood tests to evaluate pituitary function could be indicated if there was a sphenoid defect (Dr. Reilly). None of the experts would biopsy this lesion. All would proceed with a definitive resection. One surgeon would defer surgery for several months and then perform the resection via a biocoronal craniotomy (Dr. Reilly). A combined anterior craniotomy and external ethmoidectomy would be planned by another (Dr. Koopman). The third consultant would combine an anterior craniotomy with a mid-face degloving, external rhinoplasty, or lateral rhinotomy approach (Dr. Cotton). Routine perioperative antibiotics would only be used by two of the surgeons (Drs. Reilly and Koopman). If a CSF leak were encountered there are several options. A small lesion could be allowed to close on its own (Dr. Reilly). If the leak occurred while the bicoronal incision was still open or if the leak were large, it could be repaired from above (Drs. Reilly and Koopman). One surgeon would proceed with a repair from above even if the leak were encountered during the intranasal approach (Dr. Cotton). Only one surgeon would restrict postoperative activity with intubation and sedation or paralysis (Dr. Koopman). Regarding follow-up, no one was concerned about the final pathology report.(ABSTRACT TRUNCATED AT 250 WORDS)

Brain↗

Fibrous dysplasia.

The controversy is this case centers around the management of this lesion, not the differential diagnosis. All the consultants agreed that the history, physical, and CT findings were consistent with various fibroosseous lesions, the most likely being fibrous dysplasia. The need for additional tests varied with a bone scan (Dr. Kearns), a bone scan and CT scan (Dr. McGill), and MRI, MRI angiogram, bone survey, BUN, creatinine, calcium, and phosphorus (Dr. Potsic). Cosmetic and functional changes were considered priorities for the consultants, with orbital compression, malocclusion, tooth eruption, nasal obstruction, and sinusitis (Dr. Kearns), nasolacrimal duct obstruction and orbital compression (Drs. McGill and Potsic) being the concerns. Because this lesion is benign and slow-growing, the consensus is that surgery should be reserved for functional or cosmetic compromise. But how aggressive should one be and what approach should be used? The approaches varied with midface degloving or lateral rhinotomy (Dr. Kearns), midface degloving (Dr. McGill), or a Caldwell-luc and lateral rhinotomy (Dr. Potsic). Assessment of this tumor postoperatively should be with patient examinations and serial CT scans. None of the consultants worried about sarcomatous changes in this tumor.

Facial Bones↗

Computed tomography of orbital medial wall fractures.

Increasing experience with computed tomographic evaluation of head trauma reveals this radiologic modality to be superior to conventional polytomography in the assessment of certain areas of maxillofacial injury. A comparison of hypocycloidal polytomography and computed tomography in nine patients with fractures of the medial wall of the orbit reveals CT to be superior in localization of the fracture site, delineation of displaced bone fragments, and recognition of herniation of intraorbital contents into the ethmoid labyrinth. Information regarding damage to the nasolacrimal duct and associated intraorbital abnormalities such as the presence and location of hemorrhage and foreign bodies is also available from the CT scan.

Adult↗