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
