'Congenital' nystagmus may hide various ophthalmic diagnoses

To investigate whether patients registered at a low-vision centre with 'nystagmus' had any underlying, but so far unknown, ophthalmic diagnosis.

All patients registered at the low-vision centre of Uppsala county with nystagmus as their major diagnosis were identified. Their medical records were studied to exclude those with other general diagnoses that could explain the nystagmus. The remaining group of patients underwent an ophthalmic examination, refraction and optical coherence tomography (OCT). Electroretinogram and genetic analyses were performed when indicated.

Sixty-two patients with nystagmus as their main diagnosis were registered at the low-vision centre, Uppsala, and 43 of them had a major diagnosis other than nystagmus. Nystagmus was the major diagnosis in 19 patients, 15 of whom, aged 6-76 years, participated in the study. Two of the patients had foveal hypoplasia and albinism, four a seemingly isolated foveal hypoplasia, three achromatopsia, one rod-cone dystrophy, one degenerative high myopia, and two could not be evaluated. Only two patients appeared to have 'congenital' nystagmus. Eleven of the patients underwent a comprehensive genetic investigation of the PAX 6 gene. In addition, four of the patients were analysed for mutations in FOXC1 and PITX2 and one in FRMD7. No mutations were found in any of the patients analysed.

The study illustrates that many patients in our study group with nystagmus had underlying ophthalmic diagnoses. Early diagnosis is important to facilitate habilitation and to provide genetic counselling and, in the future, possibly also gene therapy.