Search: onr:"swepub:oai:lup.lub.lu.se:252b06ed-d8ff-44bd-8917-36d91b07ea37" >
Multimodal imaging ...
-
Schatz, PatrikLund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
(author)
Multimodal imaging in CABP4-related retinopathy
- Article/chapterEnglish2017
Publisher, publication year, extent ...
-
2017-03-01
-
Informa UK Limited,2017
-
6 s.
-
electronicrdacarrier
Numbers
-
LIBRIS-ID:oai:lup.lub.lu.se:252b06ed-d8ff-44bd-8917-36d91b07ea37
-
https://lup.lub.lu.se/record/252b06ed-d8ff-44bd-8917-36d91b07ea37URI
-
https://doi.org/10.1080/13816810.2017.1289543DOI
Supplementary language notes
-
Language:English
-
Summary in:English
Part of subdatabase
Classification
-
Subject category:art swepub-publicationtype
-
Subject category:ref swepub-contenttype
Notes
-
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.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
-
Elsayed, Maram E A AbdallaJeddah Eye Hospital
(author)
-
Khan, Arif O.Jeddah Eye Hospital
(author)
-
Oftalmologi, LundSektion IV
(creator_code:org_t)
Related titles
-
In:Ophthalmic Genetics: Informa UK Limited38:5, s. 459-4641381-68101744-5094
Internet link
Find in a library
To the university's database