Multimodal imaging in CABP4-related retinopathy
Schatz, Patrik LU
; Elsayed, Maram E A Abdalla
and Khan, Arif O.
(2017)
In Ophthalmic Genetics
38(5).
p.459-464
- Abstract
Purpose: Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases. Methods: Retrospective case series. Results: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined. The ages ranged between 9 and 16 years at last follow-up, and the duration of follow-up ranged from 2 to 12 years. Foveal thickness was reduced ranging between 175 and 212 micrometers. Wide field imaging including fundus autofluorescence was unremarkable. All patients presented... (More)
Purpose: Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases. Methods: Retrospective case series. Results: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined. The ages ranged between 9 and 16 years at last follow-up, and the duration of follow-up ranged from 2 to 12 years. Foveal thickness was reduced ranging between 175 and 212 micrometers. Wide field imaging including fundus autofluorescence was unremarkable. All patients presented with a negative electroretinogram, with a variable amount of cone and rod dysfunction. Over follow-up, there was no electroretinographic indication of any progressive retinal dysfunction. Conclusions: Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up.
(Less)
- author
- Schatz, Patrik
LU
; Elsayed, Maram E A Abdalla
and Khan, Arif O.
- organization
- publishing date
- 2017-03-02
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- CABP4, congenital stationary night blindness, optical coherence tomography
- in
- Ophthalmic Genetics
- volume
- 38
- issue
- 5
- pages
- 6 pages
- publisher
- Taylor & Francis
- external identifiers
-
- scopus:85014501007
- wos:000415965700010
- pmid:28635425
- ISSN
- 1381-6810
- DOI
- 10.1080/13816810.2017.1289543
- language
- English
- LU publication?
- yes
- id
- 252b06ed-d8ff-44bd-8917-36d91b07ea37
- date added to LUP
- 2017-03-17 15:17:50
- date last changed
- 2024-02-12 15:53:03
@article{252b06ed-d8ff-44bd-8917-36d91b07ea37,
abstract = {{<p>Purpose: Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases. Methods: Retrospective case series. Results: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined. The ages ranged between 9 and 16 years at last follow-up, and the duration of follow-up ranged from 2 to 12 years. Foveal thickness was reduced ranging between 175 and 212 micrometers. Wide field imaging including fundus autofluorescence was unremarkable. All patients presented with a negative electroretinogram, with a variable amount of cone and rod dysfunction. Over follow-up, there was no electroretinographic indication of any progressive retinal dysfunction. Conclusions: Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up.</p>}},
author = {{Schatz, Patrik and Elsayed, Maram E A Abdalla and Khan, Arif O.}},
issn = {{1381-6810}},
keywords = {{CABP4; congenital stationary night blindness; optical coherence tomography}},
language = {{eng}},
month = {{03}},
number = {{5}},
pages = {{459--464}},
publisher = {{Taylor & Francis}},
series = {{Ophthalmic Genetics}},
title = {{Multimodal imaging in CABP4-related retinopathy}},
url = {{https://lup.lub.lu.se/search/files/30799289/Schatz_et_al.pdf}},
doi = {{10.1080/13816810.2017.1289543}},
volume = {{38}},
year = {{2017}},
}