Patients with nystagmus attending a Low Vision clinic in Sweden were included in this study. Medical records were reviewed to exclude those with general diagnoses that could explain the nystagmus. The remaining group of patients underwent subjective refraction, retinoscopy, ocular motility, colour vision, ophthalmic examination and optical coherence tomography. Electroretinogram and genetic analyses were performed in some patients as indicated. The authors identified 62 patients with nystagmus as their main diagnosis with 43 of them having 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 this select study group with nystagmus had associated underlying ophthalmic diagnoses. The authors conclude that early diagnosis is important to facilitate patient rehabilitation and provide appropriate family counselling. 

‘Congenital’ nystagmus may hide various ophthalmic diagnoses.
Holmstrom G, Bondeson ML, Eriksson U, et al.
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Nana Theodorou

BMedSCi (Hons) PhD, Sheffield Teaching Hospitals NHS Foundation Trust, Clinical Research Office, 11 Broomfield Road, Sheffield, S10 2SE, UK.

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