The Nasolacrimal Drainage System in 143 Children with the Microphthalmos-Anophthalmos Complex

Abstract

Background Report of clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos (MAC-complex patients).

Methods A retrospective study of the notes of 207 consecutive patients treated surgically at least once with highly hydrophilic self-inflating expanders for MAC between 1998 and 2021. The lacrimal drainage system was always probed and irrigated under general anaesthesia before any other procedure was started.

Results 64 patients were excluded due to possible misdiagnosis because of previous lid or orbit surgery elsewhere or due to missing data. The analysis therefore included 67 girls and 76 boys aged between 1 and 126 months (median age: 5 months). 72 patients presented with unilateral and 42 with bilateral anophthalmos, and 24 had unilateral and 5 bilateral microphthalmos; consequently, 286 orbits (of which, 190 with probable pathology) were available for assessment. In unilateral cases the lacrimal system on the normal side was never affected. On the anophthalmic or microphthalmic side the lacrimal system was normal in 68 orbits only (35.8%). The most frequent finding was canalicular stenosis (91 orbits; 48%). Common canaliculus stenosis was observed in 12 orbits (6.3%) and nasolacrimal duct obstruction in 9 orbits (4.7%). There were four cases of punctal aplasia, but no other anomalies. In unilateral MAC pathologic findings during lacrimal probing were found to be associated with anatomical malformation of the contralateral fellow eye. Only in unilateral anophthalmos there was a significant association with cleft lip and palate, which was not found in the three other groups.

Conclusions In congenital clinical anophthalmos the lacrimal system is affected in up to 66.5% of cases, mostly due to canalicular stenosis. Even if there is no clear evidence of an embryological connection, this association is certainly not a random finding.

Key words

anophthalmos - microphthalmos - pediatric ophthalmology - orbit - plastic surgery - nasolacrimal ducts

• Literatur/References

• 1 Stallings EB, Isenburg JL, Mai CT. et al. Population-based birth defects data in the United States, 2011–2015: A focus on eye and ear defects. Birth Defects Res 2018; 110: 1478-1486
• 2 Oguz H, Ozturk A, San I. Congenital nasolacrimal duct occlusion with clinical anophthalmos: a possible new association. Ophthalmic Genet 2003; 24: 181-185
• 3 Schittkowski MP, Gundlach KK, Guthoff RF. [Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders]. Ophthalmologe 2003; 100: 525-534
• 4 Schittkowski MP, Guthoff RF. Injectable self inflating hydrogel pellet expanders for the treatment of orbital volume deficiency in congenital microphthalmos: preliminary results with a new therapeutic approach. Br J Ophthalmol 2006; 90: 1173-1177
• 5 Schittkowski MP, Guthoff RF. Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmos. Br J Ophthalmol 2007; 91: 1624-1626
• 6 Nayak A, Dave TV, Ali MJ. et al. Lacrimal drainage system anomalies in microphthalmia anophthalmia coloboma complex. Orbit 2020; 39: 155-159
• 7 Olver J. Paediatric lacrimal Surgery. In: Olver J. ed. Colour Atlas of lacrimal Surgery. Oxford: Butterworth-Heinemann; 2002: 69-89
• 8 White T, Lu T, Metlapally R. et al. Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. Mol Vis 2008; 14: 2458-2465
• 9 Hallgrimsson B, Lieberman DE, Liu W. et al. Epigenetic interactions and the structure of phenotypic variation in the cranium. Evol Dev 2007; 9: 76-91
• 10 Duke-Elder S, Cook C. The lacrimal Passages. In: Duke-Elder S. ed. Vol III Normal and abnormal Development, Pt 1 Embryology. St. Louis: CV Mosby; 1963: 241-246
• 11 Duke-Elder S. The lacrimal Apparatus. In: Duke-Elder S. ed. Vol III Normal and abnormal Development, Pt 2 Congenital Deformities. St. Louis: CV Mosby; 1963: 911-941
• 12 Gundlach KK, Guthoff RF, Hingst VH. et al. Expansion of the socket and orbit for congenital clinical anophthalmia. Plast Reconstr Surg 2005; 116: 1214-1222
• 13 Gundlach KK, Pfeifer G. Classification of facial malformations. Int J Oral Surg 1981; 10: 267-272
• 14 Katowitz JA, Welsh MG. Timing of initial probing and irrigation in congenital nasolacrimal duct obstruction. Ophthalmology 1987; 94: 698-705
• 15 Kashkouli MB, Beigi B, Parvaresh MM. et al. Late and very late initial probing for congenital nasolacrimal duct obstruction: what is the cause of failure?. Br J Ophthalmol 2003; 87: 1151-1153
• 16 Sherafat H, Mehta JS, Rose GE. Dacryocystorhinostomy in patients lacking an ipsilateral nasal cavity. Br J Ophthalmol 2007; 91: 307-309
• 17 Wang JK, Lai PC, Liao SL. Punctual and canalicular agenesis presented with congenital nasolacrimal duct obstruction. Graefes Arch Clin Exp Ophthalmol 2002; 240: 960-961
• 18 Welham RA. Canalicular obstruction and the Lester-Jones tube what to do when all else fails. Trans Ophthalmol Soc U K 1973; 93: 623-632
• 19 Welham RA, Guthoff R. The Lester-Jones tube: a 15-year follow-up. Graefes Arch Clin Exp Ophthalmol 1985; 223: 106-108
• 20 Welham RA, Hughes SM. Lacrimal surgery in children. Am J Ophthalmol 1985; 99: 27-34
• 21 Hakin KN, Sullivan TJ, Sharma A. et al. Paediatric dacryocystorhinostomy. Aust N Z J Ophthalmol 1994; 22: 231-235
• 22 Yuen SJ, Oley C, Sullivan TJ. Lacrimal outflow dysgenesis. Ophthalmology 2004; 111: 1782-1790
• 23 Cahill KV, Burns JA. Management of epiphora in the presence of congenital punctal and canalicular atresia. Ophthalmic Plast Reconstr Surg 1991; 7: 167-172