CASE REPORT
A 2monthold boy was referred to us with cleft lip and palate for ophthalmic evaluation.He was the only child of young,healthy,unrelated parents with no family history.The pregnancy was uncomplicated and he was born by spontaneous vertex vaginal delivery.
On ophthalmic examination, both eyes had iris coloboma (Figure 1) vitreous veils and optic disc coloboma together with extensive choroidal coloboma (Figure 2). Intraocular pressure measured with Tonopen was within normal range OU. Imaging studies demonstrated severe bilateral colobomatous microphthalmia, retrobulber cysts and thinned optic nerves (Figure 3). Thorough systemic evaluation yielded no other systemic abnormality.
DISCUSSION
The association between cleft lip and palate and ocular abnormalities remains a point of interest. Milerad et al[3] surveyed all infants with clefts born in greater Stockholm between 1975 and 1992 to assess the prevalance of associated malformations. Of the 616 cleft infants 21% had associated malformations and 12 cases had eye malformations (mostly coloboma). However no further information was given. Tuncbilek et al[4] looked for the incidence of additional malformations and syndromes associated with 1220 cleft lip and palate patients and demonstrated that only 9 patients had ophthalmic findings (two cases, anophthalmos, two cases, strabismus,one case,iris coloboma,one case,glaucoma,one case,limbal dermoid,one case eyelid deformity and one case microphthalmos).
In a prospective study, ocular findings in 57 consecutive patients with cleft lip and palate seeking orthodontic treatment during the year of 2006 were evaluated[5]. Eleven of 57 patients (19.1%) had ocular findings including nasolacrimal duct obstruction (five patients), ptosis (one patient), bilateral isolated iris coloboma (one patient). Noticingly, twenty patients (35%) had one or more systemic abnormalities.
Berk et al[6] reviewed the records of all patients with a diagnosis of optic disc coloboma during the period from 1994 through 2001 at the Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey and elucidated 15 patients with either colomatous defects that involved only the optic nerve or large chorioretinal colobomas including the optic nerve. Systemic abnormalities were documented in 6 (40%) of them. Only one patient had cleft lip and palate.
In light of the present case and past literature, it is wise to examine every patient with cleft lip and palate ophthalmologically to detect possible ocular abnormalities. Figure 1Picture of the right eye(left image) and left eye(right image) obtained with
RetCam II showing the inferior iris coloboma
Figure 2Fundus pictures obtained with RetCam II depicting the optic disc and choroidal
coloboma with vitreous veils (Left imageright fundus; Right imageleft fundus)
Figure 3Orbital magnetic resonance imaging (MRI); T1weighted transverse imageleft
sided,T2weighted coronal imageright sided,showing severe bilateral colobomatous
microphthalmia,retrobulber cysts and thinned optic nerves
【参考文献】
1 Hu DN, Li JH, Chen HY Chang HS, Wu BX, Lu ZK, Wang DZ, Liu XG. Genetics of cleft palate in China. Am J Hum Genet1982;34(6):9991002
2 Melnick M. Cleft lip (+/ cleft palate) etiology. A search for solutions. Am J Hum Genet1992;42(1):1014
3 Milerad J, Larson O, PhD D, Hagberg C, Ideberg M. Associated malformations in children with cleft lip and palate: A prospective population based study. Pediatrics1997;100(2 pt 1):180186
4 Tuncbilek G, Ozgur F, Balci S. 1229 yarik dudak ve damak hastasinda grülen ek malformasyon ve sendromlar. Cocuk Sag Hast Der2004;47:172176
5 Yaman A, Saatci P, Arikan G, Soylu A, Saatci AO, Kavukcu S. Ocular findings in children with nonsyndromic cleft lip and palate. Turk JPed( in Press)
6 Berk AT, Yaman A, Saatci O. Ocular and systemic findings associated with optic disc coloboma. J Ped Opthalmol Strab2003;40(5):272278 上一页 [1] [2] |