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Multimodal imaging in CABP4-related retinopathy

Schatz, Patrik LU ; Elsayed, Maram E A Abdalla and Khan, Arif O. (2017) In Ophthalmic Genetics1994-01-01+01:00 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
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
CABP4, congenital stationary night blindness, optical coherence tomography
in
Ophthalmic Genetics1994-01-01+01:00
volume
38
issue
5
pages
6 pages
publisher
Taylor & Francis
external identifiers
  • scopus:85014501007
  • wos:000415965700010
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
2018-04-22 04:27:33
@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},
  keyword      = {CABP4,congenital stationary night blindness,optical coherence tomography},
  language     = {eng},
  month        = {03},
  number       = {5},
  pages        = {459--464},
  publisher    = {Taylor & Francis},
  series       = {Ophthalmic Genetics1994-01-01+01:00},
  title        = {Multimodal imaging in CABP4-related retinopathy},
  url          = {http://dx.doi.org/10.1080/13816810.2017.1289543},
  volume       = {38},
  year         = {2017},
}