EPOS

European Paediatric Ophthalmological Society

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09 Ocular Features of Apert syndrome

Ameri, H., O'Keefe, M.
Department of Ophthalmology, Temple St. Children Hospital

Patients and Methods: We report ocular problems in 9 patients with Apert syndrome, during 8 years period, from 1993 to 2001. 6 patients were male and 3 were female.

Results: All patients had proptosis, in varying degrees. However, lid closure was normal and no patient had corneal exposure. One patient had bilateral mild ptosis.

Three patients had best visual acuity of 6/12 on Snellen acuity chart or equivalent tests in each eye. Three younger patients were fixing and following. One patient had unequal visual acuity, with visual acuity being 6/18 in the right and 6/5 in the left eye. One patient had no perception of light in either eye; his fundus demonstrated bilateral marked optic atrophy and severe pigmentary retinopathy. His CT scan of brain revealed mild dilatation of the body of the right ventricle and slight dilatation in the region of sylvian aqueduct in the right side. His ERG and VER were both abnormal.

Although mild refractive errors were universal, only five patients needed glasses. Six patients were hypermetropic and one patient was myopic, two other patients had hyperetropia in one eye and mopia in the other. Anisometropia and astigmatism were also common; four patients had anisometropia and five patients had astigmatism.

Strabismus was a common ocular finding; four patients had exotropia, and one patient had esotropia. Four of our patients had ocular motility problems, with limitation of elevation being the most common one. Two patients had inferior oblique muscle over-activity; in one of them it was associated with DVD and in the other one it was associated with superior oblique muscle under activity.

Fundal changes were common. Four patients had variable degrees of optic disc pallor. One patient had pale optic discs after longstanding papilloedema secondary to ventriculoperitoneal shunt failure.

Conclusion: Refractive errors are important cause of visual loss in patients with Apert syndrome and routine ocular examination from early life is essential to detect refractive errors and prevent amblyopia by early prescription of glasses.

Because in most cases squint is alternating and not the real cause of amblyopia, the squint should be dealt with conservatively and surgery should be avoided unless there is a strong indication for that.

Finally, pigmentary retinopathy is a very rare association of Apert syndrome.