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Multimodal imaging in CABP4-related retinopathy

Schatz, Patrik LU orcid ; 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.

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author
; and
organization
publishing date
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
  • wos:000415965700010
  • pmid:28635425
  • scopus:85014501007
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
2025-01-07 09:59:28
@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&gt;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}},
}