Nystagmus associated with macular dysplasia.

Purpose: To describe Optical Coherence Tomography (OCT) findings of the macula in patients with nystagmus, mainly the relationship between spectral-domain OCT (SD-OCT) images and nystagmus in macular dysplasia.

Methods

In this study, 17 cases (29 eyes) with congenital macular abnormalities in patients with albinism, macular heterotopias, congenital aniridia, foveal hypoplasia, congenital macular coloboma, and congenital retinoschisis were retrospectively analyzed. Patients underwent multimodal retinal imaging examinations including ultra-widefield fundus imaging, SD-OCT, autofluorescence, and visual field. When the pit was not clearly presented, SD-OCT imaging was centered at the expected foveal center.

Results

In cases of oculocutaneous albinism SD-OCT showed the absence of the foveal pit and increased foveal thickness, with nystagmus. Their fundus revealed a lack of pigment in retinal pigment epithelium with visible large choroidal vessels. SD-OCT in congenital aniridia showed a planar fovea in the macula with the lack of a foveal pit and nystagmus. SD-OCT showed the absence of a foveal pit in foveal hypoplasia with nystagmus. In cases of monocular macular heterotopia, no nystagmus was found; the fellow eye had good vision and the macular morphology was usually normal. Nystagmus was not found in patients with congenital macular coloboma and congenital retinoschisis in this study.

Conclusion

SD-OCT plays an important role in the diagnosis and prognosis of macular dysplasia in patients with nystagmus. Absence of a normal foveal pit is an OCT-imaging characteristic of macular dysplasia associated with nystagmus.