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Electrophysiological evaluation of fleck retina and temporal macular thinning in X-Linked alport's syndrome

Al Akeely, Adel ; Schatz, Patrik LU orcid and Alhazimi, Amro (2021) In Middle East African Journal of Ophthalmology 28(4). p.257-259
Abstract

We report a 39-year-old with Alport's syndrome. The patient presented with anterior lenticonus, cataract, and a corrected distance visual acuity of 20/25 and 20/60 in the right and left eyes, respectively. Fundus examination revealed generalized retinal flecks sparing the fovea in both eyes. Optical coherence topography showed temporal macular thinning. Normal fundus autofluorescence was observed in both eyes. Full-field electroretinography (ERG) demonstrated normal photopic and scotopic responses, while multifocal ERG showed no reduction of amplitudes generated from the temporal thinned macula, compared to the nasal macula, indicating preserved functional integrity of the retina.

Please use this url to cite or link to this publication:
author
; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Alport's syndrome, COL4A5, fleck retina, full field electroretinography, multifocal electroretinography
in
Middle East African Journal of Ophthalmology
volume
28
issue
4
pages
3 pages
publisher
Wolters Kluwer
external identifiers
  • scopus:85130166920
  • pmid:35719281
ISSN
0974-9233
DOI
10.4103/meajo.meajo_7_21
language
English
LU publication?
yes
id
88599029-d4f7-403f-b476-6f5b27484bc6
date added to LUP
2022-07-08 15:14:55
date last changed
2025-04-04 14:21:13
@article{88599029-d4f7-403f-b476-6f5b27484bc6,
  abstract     = {{<p>We report a 39-year-old with Alport's syndrome. The patient presented with anterior lenticonus, cataract, and a corrected distance visual acuity of 20/25 and 20/60 in the right and left eyes, respectively. Fundus examination revealed generalized retinal flecks sparing the fovea in both eyes. Optical coherence topography showed temporal macular thinning. Normal fundus autofluorescence was observed in both eyes. Full-field electroretinography (ERG) demonstrated normal photopic and scotopic responses, while multifocal ERG showed no reduction of amplitudes generated from the temporal thinned macula, compared to the nasal macula, indicating preserved functional integrity of the retina. </p>}},
  author       = {{Al Akeely, Adel and Schatz, Patrik and Alhazimi, Amro}},
  issn         = {{0974-9233}},
  keywords     = {{Alport's syndrome; COL4A5; fleck retina; full field electroretinography; multifocal electroretinography}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{257--259}},
  publisher    = {{Wolters Kluwer}},
  series       = {{Middle East African Journal of Ophthalmology}},
  title        = {{Electrophysiological evaluation of fleck retina and temporal macular thinning in X-Linked alport's syndrome}},
  url          = {{http://dx.doi.org/10.4103/meajo.meajo_7_21}},
  doi          = {{10.4103/meajo.meajo_7_21}},
  volume       = {{28}},
  year         = {{2021}},
}