Ectopia lentis is considered to be the hallmark of ocular involvement in Marfan's syndrome. Other ocular findings reported in this disorder consist of keratoconus, megaloglobus, axial myopia, blue sclerae, and hypoplasia of the dilator pupillae muscles.1 Two reports have appeared in the ophthalmic literature offering histologic evidence of anomalies in the anterior chamber angle in 2 patients with arachnodactyly.
Theobald2 reported a histopathological study of an eye removed after death from a 27-month-old infant born with arachnodactyly. The congenital abnormalities described consisted of mesodermal tissue anomalies suggesting an incomplete separation between the iris and trabeculum. In addition to this the dilator pupillae and the circular muscle of the ciliary body were not developed. Theobald surmised that an arrest of differentiation must have taken place in embryonic life, somewhere between the fifth and seventh fetal month.
A similar report appeared more recently by Reeh and Lehman.3 These authors
von NOORDEN GK, SCHULTZ RO. A Gonioscopic Study of the Chamber Angle in Marfan's Syndrome. Arch Ophthalmol. 1960;64(6):929-934. doi:10.1001/archopht.1960.01840010931015