An unusual extraocular muscle anomaly in a patient with Crouzon's disease.

Abstract

SUMMARY A 29-year-old female suffering from Crouzon's disease was admitted to hospital with retinal detachment in the right eye. At operation agenesis of 4 extraocular muscles (superior and inferior recti and obliquus) was found, together with abnormal insertion of the 2 horizontal muscles. The same extraocular muscular abnormalities were found in the left eye. We suggest here a new surgical treatment in such cases and discuss the reasons for the limitation of ocular motility in such cases.

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

“…Both of these conditions are usually sporadic. Absent eye muscles have also been reported in association with some craniosynostoses [Snir et al, 1982;Cuttone et al, 19791. We describe a family in which there is an absence of eye muscles and in addition anterior chamber defects, hydrocephalus, skeletal changes, and specific dysmorphic features. In 3 individuals some of these findings are part of the Axenfeld-Rieger syndrome but absent eye muscles are not usually part of that condition.…”

Dissociated eye movements in craniosynostosis: a hypothesis revived.

“…Another distorting possibility is the alteration of the direction of vectors by displacement of the fulcrum through contact between the rim of the orbit and the inferior rectus muscle. 8 As Morax' pointed out, this theory is inadequate, as the 'V' syndrome is unchanged after surgery, and the anomalies can be seen in 'teleorbitism without exorbitism'.…”

Absence of all cyclovertical extraocular muscles in a child who has Apert syndrome

“…2 To our knowledge, there has not been a published case of complete agenesis of four extraocular muscles associated with Apert syndrome and there has been only one published case report of agenesis of four extraocular muscles in any craniosynostosis syndrome, a 29-year-old woman with Crouzon's disease. 5 Considering the magnitude of the vertical deviation combined with several missing extraocular muscles, achieving adequate eye alignment to allow binocular vision can be challenging. A Foster-type modification 6 of the medial and lateral rectus muscles was considered, but ultimately was not performed as the orbit was too shallow inferiorly to allow placement of the posterior fixation suture.…”