Добавил:
kiopkiopkiop18@yandex.ru t.me/Prokururor I Вовсе не секретарь, но почту проверяю Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз: Предмет: Файл:
Ординатура / Офтальмология / Английские материалы / Essentials in Ophthalmology Oculoplastics and Orbit Aesthetic and Functional Oculofacial Plastic Problem-Solving in the 21st Century_Guthoff, Katowitz_2009.pdf
Скачиваний:
0
Добавлен:
28.03.2026
Размер:
31.42 Mб
Скачать

7.5 Conclusions

115

Fig. 7.6 Neonate with clinical anophthalmos and bilateral clefting of the lip, upper jaw, and palate; trisomy 13 confirmed after genetic diagnosis

these occlusions. Obstruction of the valve of Hasner, otherwise typical in this age group [12], played only a minor role in our patients even though the incidence of 8% was approximately consistent with the incidence for this age group, which is reported in the literature to be as high as 15% [14, 15, 17].

In 1887, Collins [4] supplemented the 30 anophthalmos cases published in the literature up to that time with 12 new cases and pointed out the occasional absence of the lacrimal puncta and canaliculi. The lacrimal puncta were always present in our patients.

To date, there have been no comprehensive newer studies of the nasolacrimal duct system in anophthalmos. One case report has described an association between congenital stenosis of the valve of Hasner and congenital anophthalmos [16], but the results presented in our study suggest that this is rather the exception.

So far, the high incidence of nasolacrimal duct anomalies has therapeutic implications only when there is classic congenital stenosis of the valve of Hasner that is successfully corrected in the course of diagnostic probing. Bearing in mind the possible presence of a pathogen reservoir, elimination of the obstruction should be performed so expander therapy is not jeopardized by infec- tion-related complications. However, the vast majority (91.3%) of all stenoses were diagnosed in presaccal locations; because the development of inflammation is not to be expected, surgical management is indicated here only in troublesome epiphora [20].

Summary for the Clinician

Treatment appears to be necessary only in “classic” congenital stenosis.

7.5Conclusions

If pathology is unilateral, patients with anophthalmos have a poorer prognosis than those with microphthalmos in terms of the potential visual capacity of the fellow eye. The consequence arising from the high incidence of associated developmental anomalies of the fellow eye is that a thorough ophthalmological examination must be a sine qua non for all affected children.

Anophthalmos is also a poorer prognostic factor than microphthalmos in terms of its association with a wide range of systemic diseases. Patients with unilateral anophthalmos tend to display ipsilateral facial anomalies, whereas patients with bilateral anophthalmos are characterized mainly by intracranial anomalies. The consequence must be that every affected child should undergo a meticulous program of pediatric diagnosis that also includes neuroradiological examination.

Because causal therapy is often not available, the recording of all findings enables a reliable prognosis to be established and, if appropriate, permits early initiation of specific measures to promote visual acuity.

116

7 Systemic and Ophthalmic Anomalies in Congenital Anophthalmic or Microphthalmic Patients

References

1.Albernaz VS, Castillo M, Hudgins PA, Mukherji SK (1997) Imaging findings in patients with clinical anophthalmos.

7Am J Neuroradiol 18(3):555–561

2.Bermejo E, Martínez-Frías ML (1998) Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 75(5): 497–504

3.Brodsky MC, Conte FA, Taylor D, Hoyt CS, Mrak RE (1997) Sudden death in septo-optic dysplasia. Report of 5 cases. Arch Ophthalmol 115(1):66–70

4.Collins ET (1887) On anophthalmos. Royal London Ophthalmic Hospital Reports. J Ophthal Med 40:429–455

5.Daxecker F, Felber S (1993) Magnetic resonance imaging features of congenital anophthalmia. Ophthalmologica 206(3):139–142

6.Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, Van Heyningen V, Fitzpatrick DR (2003) Mutations in SOX2 cause anophthalmia. Nat Genet 33(4):461–463. (Epub 3 Mar 2003)

7.Frosini R, Papini M, Campana G, Giovannucci Uzielli ML (1981) Contribution of computerized tomography to the study of severe congenital ocular dysplasias. Study of a case of clinical anophthalmos. Ophthalmologica 183(2):72–76

8.Gundlach KKH, Guthoff RF, Hingst V, Schittkowski MP, Bier UC (2005) Expansion of the socket and the orbit for congenital clinical anophthalmia. Plast Reconstr Surg 116(5):1214–1222

9.Hornby SJ, Dandona L, Foster A, Jones RB, Gilbert CE (2001) Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India. Dev Med Child Neurol 43(6):392–398

10.Jacquemin C, Mullaney PB, Bosley TM (2000) Ophthalmological and intracranial anomalies in patients with clinical anophthalmos. Eye 14(1):82–87

11.Kallen B, Robert E, Harris J (1996) The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol 25(5):1009–1016

12.Katowitz JA, Welsh MG (1987) Timing of initial probing and irrigation in congenital nasolacrimal duct obstruction. Ophthalmology 94:698–705

13.Mouriaux F, Audo I, Defoort-Dhellemmes S, Labalette P, GuilbertF,ConstantinidesG,PellerinP(1997)Management of congenital microphthalmos and anophthalmos. J Fr Ophthalmol 20(8):583–591

14.Müller F (1975) Erkrankungen der Tränenorgane. In: Velhagen K (ed) Der Augenarzt, 2nd ed, vol. 3. VEB Georg Thieme, Leipzig, pp 7–131

15.Noda S, Hayasaka S, Setogawa T (1991) Congenital nasolacrimal duct obstruction in Japanese infants: its incidence and treatment with massage. J Pediatr Ophthalmol Strabismus 28(1):20–22

16.Oguz H, Ozturk A, San I (2003) Congenital nasolacrimal duct occlusion with clinical anophthalmos: a possible new association. Ophthalmic Genet 24(3):181–185

17.Olver J (2001) Paediatric lacrimal surgery. In: Olver J (ed) Colour atlas of lacrimal surgery. Butterworth-Heinemann, Oxford, pp 69–90

18.Schittkowski MP, Gundlach KK, Guthoff RF (2003) Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders. Ophthalmologe 100(7): 525–534

19.Schittkowski MP, Guthoff RF (2006) 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 90(9):1173–1177. (Epub 17 May 2006)

20.Schittkowski MP, Guthoff RF (2007) Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmos. Br J Ophthalmol 91(12): 1624–1626. (Epub 13 June 2007)

21.Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ (2005) Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989–1997. Am J Med Genet A 137(1):36–40

22.Srsen S (1973) Congenital anophthalmos in two siblings. Acta Univ Carol Med Monogr 56:136–139

23.Tucker S, Jones B, Collin R (1996) Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos. Eye 10(3):310–314

24.Verma AS, Fitzpatrick DR (2007 Nov) Anophthalmia and microphthalmia. Orphanet J Rare Dis 26:47–54