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Ciliary Body Dysplasia in a Case of Megalophthalmos Anterior

1Kuchenbecker J., 2Meltendorf S., 1Behrens-Baumann W.,
1Otto-von-Guericke-Universität Magdeburg, Universitäts-Augenklinik (Magdeburg)
2Otto-von-Guericke-Universität, Universitäts-Augenklinik (Magdeburg)

Purpose: Megalocornea is a congenital corneal abnormality and occurs in three patterns: simple megalocornea unassociated with other ocular abnormalities; megalophthalmos anterior with megalocornea, iris and angle abnormalities and buphthalmos in infantile glaucoma. Megalophthalmos anterior is a rare, most X-linked recessive, nonprogressive bilaterally-symmetrical condition. The differentiation between simple megalocornea, megalophthalmos anterior and primary infantile glaucoma is often difficult, but important, as in the latter surgical treatment prevent blindness.
Case report: A 23-year-old, healthy man was seen in our outpatient department with bilateral symmetric megalocornea (vertical diameter 14,0 mm). Visual acuity with glasses was 20 /16 in both eyes. The myopic refraction was 6,0 D in the right eye and 5,0 D in the left eye. Corneal curvature was normal. Slit-lamp examination showed a clear cornea, an enlargement of the complete anterior segment of the eye and peripheral iris transillumination defects. Gonioscopy revealed a wide open angle with excessive mesenchymal tissue. Intraocular pressure was 10 mm Hg in both eyes. Signs of glaucoma were absent. The optic nerve heads did not show any pathological findings and computed perimetry was normal. Biometrically measured anterior chamber depth was increased to 5,3 mm in the right and 5,2 mm in the left eye. Lens thickness was 3,8 mm in both eyes. We performed an ultrasound biomicroscopy examination in both eyes with radial and transverse sections of the globe at the 3, 6 9 and 12 o´clock position. In both eyes ultrasound biomicroscopy shows a cornea with normal thickness, open angle (62 degree), thinning of the root of the iris and insertion of ciliary processes on the posterior surface of the peripheral iris instead of ciliary body. Megalophthalmos anterior with ciliary body dysplasia was diagnosed.
Conclusions: Ultrasound biomicroscopy examinations of ciliary body in megalophthalmos anterior has not yet been described. We emphasize that in cases with megalocornea, ultrasound biomicroscopy is a helpful, additional tool for examination of the ciliary body. Perhaps ciliary body dysplasia may be a further feature for distinguishing megalophthalmos anterior from buphthalmos.