Whole Exome Sequencing Reveals Novel Genetic Variants in Patients with Atypical Non-Syndromic Retinitis Pigmentosa
Fatemeh Abdi1 *
- Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
Abstract: Retinitis Pigmentosa is the main cause of hereditary blindness. This group of clinically and genetically heterogeneous group of disorders often starts with night blindness, and ultimately leads to complete blindness. The classic triad of RP, retinal bone-spicule pigmentation, blood vessel attenuation, and waxy disc pallor is absent in atypical cases, and that even hardens the definite clinical diagnosis in these cases.
Methods: We conducted whole exome sequencing on eight unrelated patients with atypical non-syndromic Retinitis Pigmentosa manifestation in ophthalmologic findings to identify causative genetic variants. Sanger sequencing was used to confirm variants and analyze segregation within families
Results: Three novel variants were identified: MAK:c.768delA, RP1:c.4743delA, and RPE65:c.95-2A>G. Additionally, we observed known variants associated with atypical RP, emphasizing the importance of genetic testing for accurate diagnosis.
Conclusion: Our findings expand the genetic spectrum of Retinitis Pigmentosa, particularly in atypical cases. The identification of both novel and non-novel variants highlights the importance of Whole Exome Sequencing in accurate diagnosis and possible personalized treatment.
