A Patient with Keratoconus, Nanophthalmos, Lipodermoids, and Pigmentary Retinopathy

A 44-year-old male with no pertinent history other than poor vision for more than 25 years was examined. Best corrected visual acuity was 20/80 OD [MR: +14.25 +1.00 × 15°] and 20/200 OS [MR: +15.00 +1.50 × 175°]. Significant limitation in ocular movements and the presence of an orbital lipodermoid in the infero-temporal aspect of each eye were noted. Forced duction test was positive for the same directions of limitation indicating possible extraocular muscle fibrosis. Ophthalmoscopy was remarkable for the presence of peripheral bony spicules. Corneal topography was compatible with keratoconus (Kmax = 55.04D OD and 52.87D OS). A-scan revealed axial lengths of 16.96 mm OD and 16.32 mm OS, compatible with a diagnosis of nanophthalmos. OCT revealed diffuse macular thickening for both eyes with foveal thickness of 350 µm OD and 353 µm OS. Over the next 12 years the patient had stable visual acuity, manifest refractions and anterior segment examination. Ophthalmoscopy revealed only minimal progression of pigmentary changes. We report the first case of these simultaneous multiple findings which may refer to a possible syndromic association of congenital or early childhood onset.