Literature DB >> 17317401

Optical coherence tomography findings in occult macular dystrophy.

Robert J Brockhurst1, Michael A Sandberg.   

Abstract

PURPOSE: To determine the basis for unexplained visual acuity loss in selected patients.
DESIGN: Observational study of patients with unexplained reduced visual acuity.
METHODS: We used optical coherence tomography (OCT) to evaluate foveal structure in eight patients. These patients had corrected visual acuities of 20/25 to count fingers in one or both eyes and a normal ocular examination. We recorded foveal cone electroretinograms (ERGs) as an objective measure of foveal function.
RESULTS: Seven patients showed reduced foveal thickness associated with thinning of the outer nuclear layer (ONL), and five of these patients also had reduced foveal cone ERGs. One patient had normal tomograms and reduced foveal ERGs.
CONCLUSIONS: Unexplained reductions in visual acuity may result from photoreceptor loss or foveal malfunction without photoreceptor loss, which are indicators of occult macular dystrophy. OCT and the foveal cone ERG together appear to be sufficient to identify the basis for visual acuity loss in these patients.

Entities:  

Mesh:

Year:  2006        PMID: 17317401     DOI: 10.1016/j.ajo.2006.10.025

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  13 in total

Review 1.  Occult macular dystrophy.

Authors:  Yozo Miyake; Kazushige Tsunoda
Journal:  Jpn J Ophthalmol       Date:  2015-02-10       Impact factor: 2.447

2.  ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1.

Authors:  Norman Saffra; Carly Jane Seidman; Aleksandr Rakhamimov; Stephen H Tsang
Journal:  BMJ Case Rep       Date:  2017-05-04

3.  Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

Authors:  Masakazu Akahori; Kazushige Tsunoda; Yozo Miyake; Yoko Fukuda; Hiroyuki Ishiura; Shoji Tsuji; Tomoaki Usui; Tetsuhisa Hatase; Makoto Nakamura; Hisao Ohde; Takeshi Itabashi; Haru Okamoto; Yuichiro Takada; Takeshi Iwata
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

4.  Characterizing the phenotype and genotype of a family with occult macular dystrophy.

Authors:  Connie J Chen; Hendrik P N Scholl; David G Birch; Takeshi Iwata; Neil R Miller; Morton F Goldberg
Journal:  Arch Ophthalmol       Date:  2012-12

5.  A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy--case report.

Authors:  Wojciech Lubiński; Wojciech Gosławski; Krzysztof Penkala; Monika Drobek-Słowik; Danuta Karczewicz
Journal:  Doc Ophthalmol       Date:  2007-10-23       Impact factor: 2.379

6.  Pattern-reversal visual-evoked potential in patients with occult macular dystrophy.

Authors:  Gen Hanazono; Hisao Ohde; Kei Shinoda; Kazushige Tsunoda; Kazuo Tsubota; Yozo Miyake
Journal:  Clin Ophthalmol       Date:  2010-12-10

Review 7.  Juvenile-onset macular degeneration and allied disorders.

Authors:  Victoria North; Rony Gelman; Stephen H Tsang
Journal:  Dev Ophthalmol       Date:  2014-04-10

8.  Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).

Authors:  Hidenori Takahashi; Takaaki Hayashi; Hiroshi Tsuneoka; Tadashi Nakano; Hisashi Yamada; Satoshi Katagiri; Yujiro Fujino; Yasuo Noda; Miwako Yoshimoto; Hidetoshi Kawashima
Journal:  Doc Ophthalmol       Date:  2014-05-17       Impact factor: 2.379

9.  Detection of photoreceptor disruption by adaptive optics fundus imaging and Fourier-domain optical coherence tomography in eyes with occult macular dystrophy.

Authors:  Yoshiyuki Kitaguchi; Shunji Kusaka; Tatsuo Yamaguchi; Toshifumi Mihashi; Takashi Fujikado
Journal:  Clin Ophthalmol       Date:  2011-03-10

10.  Analysis of macular cone photoreceptors in a case of occult macular dystrophy.

Authors:  Naoki Tojo; Tomoko Nakamura; Hironori Ozaki; Miyako Oka; Toshihiko Oiwake; Atsushi Hayashi
Journal:  Clin Ophthalmol       Date:  2013-05-08
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