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Article

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

1
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia
2
Department of Ophthalmology, King Abdullah Medical City, Makkah 56757, Saudi Arabia
3
Ophthalmology Department, Prince Mohammed Medical City, Sakakah 11451, Saudi Arabia
4
Department of Ophthalmology, Clinical Sciences, Skane University Hospital, Lund University, Lund 11462, Sweden
5
Ophthalmology Division, Surgery Department, Faculty of Medicine, University of Tabuk, Tabuk 71491, Saudi Arabia
*
Author to whom correspondence should be addressed.
Academic Editor: Mitsuru Nakazawa
Clin. Pract. 2022, 12(4), 491-500; https://doi.org/10.3390/clinpract12040053
Received: 18 May 2022 / Revised: 17 June 2022 / Accepted: 20 June 2022 / Published: 5 July 2022
Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP. View Full-Text
Keywords: URP; ffERG; retinal dystrophy; AGBL5; RPGR; ciliopathy URP; ffERG; retinal dystrophy; AGBL5; RPGR; ciliopathy
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MDPI and ACS Style

Milibari, D.; Magliyah, M.; Semidey, V.A.; Schatz, P.; ALBalawi, H.B. Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation. Clin. Pract. 2022, 12, 491-500. https://doi.org/10.3390/clinpract12040053

AMA Style

Milibari D, Magliyah M, Semidey VA, Schatz P, ALBalawi HB. Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation. Clinics and Practice. 2022; 12(4):491-500. https://doi.org/10.3390/clinpract12040053

Chicago/Turabian Style

Milibari, Doaa, Moustafa Magliyah, Valmore A. Semidey, Patrik Schatz, and Hani B. ALBalawi. 2022. "Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation" Clinics and Practice 12, no. 4: 491-500. https://doi.org/10.3390/clinpract12040053

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