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Syndromic and Nonsyndromic Systemic Associations of Congenital Lacrimal Drainage Anomalies: a Major Review

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Syndromic and Nonsyndromic Systemic Associations of Congenital Lacrimal Drainage Anomalies: a Major Review MAJOR REVIEW Syndromic and Nonsyndromic Systemic Associations of Congenital Lacrimal Drainage Anomalies: A Major Review Mohammad Javed Ali, F.R.C.S.*† and Friedrich Paulsen, M.D.† *Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India; and †Institut für Anatomie, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany. of 223 children in their series to have craniofacial abnormalities, Purpose: To review and summarize the syndromic, and Barnes et al.8 found 8% (10/121) of his patients had systemic nonsyndromic, and systemic associations of congenital lacrimal associations. It may therefore be helpful to review the embryo- drainage anomalies. genesis of the lacrimal system, to be able to better appreciate Methods: The authors performed a PubMed search of all their associations with multiple craniofacial syndromes. articles published in English on congenital lacrimal anomalies The lacrimal drainage system develops as a fold of ecto- (1933–2016). Patients of these articles were reviewed along derm (lacrimal lamina) along the line of cleft between the lat- with the literature of direct references to syndromes and other eral nasal and maxillary processes during the Carnegie stage systemic associations. Data reviewed included syndromic 16 of the embryonic development. The lamina separates from descriptions, systemic details, demographics, lacrimal the ectoderm to form a lacrimal cord (Carnegie stage 19). The presentations, management, and outcomes. lateral end of the cord bifurcates to form canaliculi and the other Results: Syndromic and systemic associations with end gets arranged lateral and inferior to the inferior meatal lam- congenital lacrimal drainage disorders are not known to be ina (Carnegie stage 20). This is followed by condensation of common. Although familial presentations have been reported, the surrounding mesenchyme (Carnegie stage 22) and the lac- the inheritance patterns are unclear for most anomalies. rimal drainage system shows good morphologic differentiation There is an increasingly growing evidence of a genetic basis (Carnegie stage 23) and subsequently gets fully canalized.2,5 to many lacrimal anomalies. However, few syndromes have Embryonic development of the lacrimal system is closely either widespread or are frequently associated with lacrimal related to the embryogenesis of first and second branchial arches anomalies. Few sequences of distinct lacrimal presentations and the nasomaxillary region. Any disruptions in the craniofa- and intraoperative findings are seen. Surgical challenges in cial development and more so the nasomaxillary region can these patients are distinct and a thorough pre and intraoperative have profound effects on the development of bony and soft lac- anatomical assessment, detailed imaging when indicated, and rimal tissues. Numerous syndromes and systemic associations assessment and correction of associated periocular and facial of congenital lacrimal disorders have been documented albeit abnormalities may facilitate good outcomes. in very few cases each with an exception of Down’s syndrome Conclusions: Lacrimal drainage anomalies associated with and Ectrodactyly-Ectodermal Clefting (EEC) syndrome.9–11 The syndromic and nonsyndromic systemic conditions have certain current review describes and summarizes the systemic abnor- unique features of their own and their surgical and anesthesia malities and their lacrimal associations. challenges are distinct. Diagnosis of congenital lacrimal drainage anomalies should prompt consideration of the possible METHODS presence of associated systemic abnormalities. The authors performed a PubMed search of all articles published (Ophthal Plast Reconstr Surg 2017;33:399–407) in English on congenital lacrimal anomalies (1933–2016). Pertinent cross references were obtained from the resultant studies. Patients of these articles were reviewed along with the literature of direct refer- ences to syndromes and other systemic associations. Data reviewed ongenital lacrimal drainage disorders are commonly encoun- included syndromic descriptions, systemic details, demographics, lac- Ctered in clinical practice.1–5 The prevalence of lacrimal rimal presentations, management, and outcomes. anomalies with syndromic and nonsyndromic systemic associa- tions is not clearly known. From data of children undergoing lac- RESULTS 6 rimal surgeries, Welham and Hughes found 87 of 143 children In view of numerous syndromic associations, those syndromes 7 to have some developmental defects while Hakin et al. found 25 where lacrimal anomalies are either frequent or well established are dis- cussed in detail. The syndromes or systemic associations where lacrimal Accepted for publication March 20, 2017. anomalies are extremely rare or have been mentioned only once or twice Dr. Ali received support from the Alexander von Humboldt Foundation are mentioned in a separate section along with their lacrimal defects. for his research and he also receives royalties from Springer for the textbook Table 1 depicts all the syndromic associations of congenital lacrimal “Principles and Practice of Lacrimal Surgery’. Dr. Paulsen was supported by Deutsche Forschungsgemeinschaft (DFG) grants PA738/1-1 to 1–5 as drainage anomalies. well as PA738/2-1. He receives royalties from Elsevier for the anatomy atlas “Sobotta.” SYNDROMIC ASSOCIATIONS The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Mohammad Javed Ali, F.R.C.S, Govindram Seksaria Institute of Dacryology, L.V.Prasad Eye Down Syndrome. Down syndrome or trisomy 21 is one of the Institute, Road No. 2, Banjara Hills, Hyderabad 500034, India. E-mail: most common chromosomal abnormalities and is characterized [email protected] by mental retardation, stunted growth, umbilical hernias, DOI: 10.1097/IOP.0000000000000923 poor muscle tone, microstomia with a proportionately large Ophthal Plast Reconstr Surg, Vol. 33, No. 6, 2017 399 Precis: Lacrimal drainage anomalies associated with syndromic and nonsyndromic systemic conditions have certain unique features Copyright © 2017 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc. Unauthorized reproduction of this article is prohibited. of their own. Diagnosis of congenital lacrimal drainage anomalies should prompt consideration of the possible presence of associated systemic abnormalities. M. J. Ali and F. Paulsen Ophthal Plast Reconstr Surg, Vol. 33, No. 6, 2017 tongue, ear abnormalities, short neck, and flat nose. Among the abnormalities of the lacrimal system, there are reports of syndromes with lacrimal anomalies, Down syndrome is by far functional epiphora secondary to weakness of the lacrimal the most well known. The syndrome comprises 12% to 30% pump.23–25 Generalized muscular hypotony, floppy eyelids, of patients with developmental defects undergoing pediatric and altered mid face anatomy have been proposed as factors dacryocystorhinostomy (DCR).6,8 The prevalence of lacrimal contributing for the functional loss of tear drainage.23–25 anomalies among Down syndrome patients has been reported Congenital lacrimal fistula in Down syndrome can be to vary between 3.3% and 35.6%.12–21 Down syndrome is known unilateral31–33 or bilateral.31,33–35 They can be the only lacrimal to influence every anatomical portion of the lacrimal drainage anomaly in Down syndrome32 but most have associated NLD 33–35 system. Although the most common associated abnormality obstructions and recurrent dacryocystitis. Fistulectomy with is congenital nasolacrimal duct obstruction (CNLDO), probing and silicone intubation where required helps in success- 31–37 other developmental defects documented include punctal ful outcomes. agenesis, congenital supernumerary or accessory puncta, The NLDs in most series of Down’s syndrome have shown anatomical abnormalities either as focal stenosis or dif- canalicular atresia, canalicular stenosis, lateral malpositions 14,15,26,38 of the puncta and canaliculi, congenital lacrimal fistula, fuse stenosis, other than obstructions at its distal end. Baran et al.25 showed that in patients with Down syndrome less lacrimal sac dysgenesis, gross stenosis of NLDs, functional than 5 years, the transverse diameter of the NLD was consis- obstructions of the lacrimal system, and anteriorly displaced tently smaller by 1 to 2 mm as compared with age-matched con- inferior turbinates.11–41 Although the congenital epiphora in trols. In addition, the nasal mucosa around the NLD was found Down syndrome can mostly be attributed to the anatomical to be hypertrophic. Clinical presentation is usually delayed as compared with the nonsyndromic CNLDO.14,15,23,25 Although Table 1. Syndromes associated with congenital lacrimal the typical anatomical abnormalities of NLDs had led to the drainage anomalies suggestion of balloon dacryoplasty as a primary procedure,23,39 some series have shown good success with mostly probing and 1. Down’s syndrome11–41 silicone intubation.15,40 Unilateral disease and isolated lower end 2. Ectrodactyly-ectodermal dysplasia-clefting syndrome42–53 NLD obstructions are reported to be good prognostic factors 3. Treacher-Collins syndrome54–58 for successful treatment of epiphora in Down syndrome.40 It is 59–66 4. Rubinstein-Taybi syndrome important to note that secondary to abnormal position of the 67–70 5. Lacrimo-auriculo-dento-digital or Levy-Hollister syndrome eyelids, there have been reports of stent-related complications 6. Hay-Wells syndrome11,43,71
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