Nanophthalmos clinical features and specific outcome

Summary Nanophthalmos is a rare genetic eye disease. Anterior and posterior segment of the eyeball are significantly reduced without major structural anomaly. Otherwise than in microphthalmia, the eye is functional, visually functional with an extreme farsightedness or hyperopia. The high hyperopia is usually the first sign detected. In nanophthalmos, ultrasound shows markedly reduced axial lengths. They also present thickening of scleral tissues with fibronectin level. Although they may suffer problems associated with the extreme small size. An increased risk of glaucoma especially by closure angle may be observed. Uveal effusion represents the major complication and ocular surgery should be avoided as far as possible. Complications may lead to amblyopic vision loss. These seem secondary to the actual disease state, which may be viewed as one extreme on the spectrum of refractive errors. Nanophthalmic patients in infancy present a relatively good visual acuity but the pathology may lead to severe visual impairment.