Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation
Milibari, Doaa ; Magliyah, Moustafa ; Semidey, Valmore A. ; Schatz, Patrik LU
and Albalawi, Hani B.
(2022)
In Clinics and Practice
12(4).
p.491-500
- Abstract
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... (More)
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.
(Less)
- author
- Milibari, Doaa
; Magliyah, Moustafa
; Semidey, Valmore A.
; Schatz, Patrik
LU
and Albalawi, Hani B.
- organization
- publishing date
- 2022-08
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- AGBL5, ciliopathy, ffERG, retinal dystrophy, RPGR, URP
- in
- Clinics and Practice
- volume
- 12
- issue
- 4
- pages
- 10 pages
- publisher
- MDPI AG
- external identifiers
-
- pmid:35892439
- scopus:85147470825
- ISSN
- 2039-7283
- DOI
- 10.3390/clinpract12040053
- language
- English
- LU publication?
- yes
- id
- 50d1e9ee-a363-4b2b-aa4d-27714ce3e16f
- date added to LUP
- 2023-02-20 14:06:12
- date last changed
- 2024-04-19 12:52:09
@article{50d1e9ee-a363-4b2b-aa4d-27714ce3e16f,
abstract = {{<p>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.</p>}},
author = {{Milibari, Doaa and Magliyah, Moustafa and Semidey, Valmore A. and Schatz, Patrik and Albalawi, Hani B.}},
issn = {{2039-7283}},
keywords = {{AGBL5; ciliopathy; ffERG; retinal dystrophy; RPGR; URP}},
language = {{eng}},
number = {{4}},
pages = {{491--500}},
publisher = {{MDPI AG}},
series = {{Clinics and Practice}},
title = {{Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation}},
url = {{http://dx.doi.org/10.3390/clinpract12040053}},
doi = {{10.3390/clinpract12040053}},
volume = {{12}},
year = {{2022}},
}