Retinitis pigmentosa and ocular motility alterations: new frontiers, review

Purpose: To carry out a review of the literature on alterations in extraocular motility in Retinitis Pigmentosa (RP), focusing on the possible genetic basis of ocular alterations. Design: Systematic review Methods: The search of publications was carried out using the databases: Scopus, PubMed, Google Scholar, Web of Science, considering clinical cases, case reports, and systematic reviews of ocular motility alterations in the Retinitis Pigmentosa in the literature. The words: “ocular motility alterations, Retinitis Pigmentosa, orthoptic evaluation, case reports, clinical cases, systematic reviews” were used. Results: A total of 2 articles from 2006–2022 were retrieved: No other ocular motility alterations clinical cases linked to RP were found before. Particularly, a study conducted on patients affected by typical RP showed that there was an impaired motility in 50% of them. Since RP is a genetically determined disease, in reference to the studies analyzed, the absence of eye movement disorders in a percentage of the sample could be related to the different penetrance of the disease that determines the existence of healthy carriers. Conclusion: Therefore, it would be important to search for a possible correlation between the genetic mutations involved in this hereditary disorder and the deficits in extraocular motility, in order to make an early diagnosis of RP in genetically predisposed subjects. The existence of alterations of extraocular motility in subjects with RP, indicates that a careful orthoptic screening can allow a further contribution to an early diagnosis of this disease, especially in subjects with positive family history and healthy carriers.