A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis

X-linked retinoschisis (XLRS) is a rare inherited eye disease that mostly affects young boys and leads to progressive vision loss. Due to Finland’s unique population history, XLRS is more common here than in many other countries, affecting over 300 individuals.
 
A recent Finnish study—the largest and longest of its kind—followed 52 XLRS patients over several years to better understand the condition. Researchers found that most patients carried specific Finnish genetic mutations, but these mutations did not directly predict how severe their vision problems would be. Instead, the study showed that certain eye changes, like macular atrophy (thinning of the central retina), were linked to poorer vision. In contrast, changes in the outer parts of the retina increased the risk of complications such as bleeding inside the eye.
 
Nearly half of the patients in the study met the World Health Organization's criteria for visual impairment, highlighting the significant impact of XLRS on daily life. These findings emphasize the need for regular eye check-ups, especially for those with peripheral retinal damage, to prevent complications and manage the disease more effectively.
 
Because there is no cure for XLRS yet, continued research is crucial to finding better treatments and improving the quality of life for those affected.

Original article:
A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA, Baraas RC, Majander A, Backlund MP, Krootila J, Paavo M, Lindahl P, Vasara K, Sankila EM, Kivelä TT, Turunen JA. Acta Ophthalmologica. 2024.