Cone Photoreceptor Abnormalities Correlate With Vision Loss in a Case of Acute Posterior Multifocal Placoid Pigment Epitheliopathy

Hong, In Hwan; Park, Sung Pyo; Chen, Ching Lung; Kim, Hyoung Kyun; Tsang, Stephen H.; Chang, Stanley

doi:10.3928/23258160-20131220-12

Cited by 5 publications

(4 citation statements)

References 15 publications

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“…Dark-adaptation thresholds, full-field ERG and multifocal ERG recordings were measured in accordance with ISCEV recommendations 40,41 . AOSLO was performed in patient CHRO628-II:2 as described previously 42–45 .…”

Section: Methodsmentioning

confidence: 99%

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

et al. 2015

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Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using homozygosity mapping and whole-exome and candidate gene sequencing, we identified ten families carrying six homozygous and two compound-heterozygous mutations in the ATF6 gene (encoding activating transcription factor 6A), a key regulator of the unfolded protein response (UPR) and cellular endoplasmic reticulum (ER) homeostasis. Patients had evidence of foveal hypoplasia and disruption of the cone photoreceptor layer. The ACHM-associated ATF6 mutations attenuate ATF6 transcriptional activity in response to ER stress. Atf6−/− mice have normal retinal morphology and function at a young age but develop rod and cone dysfunction with increasing age. This new ACHM-related gene suggests a crucial and unexpected role for ATF6A in human foveal development and cone function and adds to the list of genes that, despite ubiquitous expression, when mutated can result in an isolated retinal photoreceptor phenotype.

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Section: Methodsmentioning

confidence: 99%

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

et al. 2015

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“…Although AO-SLO was designed to visualize photoreceptors and has been mostly employed for this purpose, it has also been applied to the visualization of vascular features in both normal retina and retina in vascular disorders 8 9 . Therefore, AO-SLO has been used to investigate various retinal diseases at high magnification and has led to new knowledge in retinal disorders 10 11 12 13 . A few studies using AO imaging have observed the microscopic structure of hard exudates in the retina of living subjects 10 14 15 .…”

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confidence: 99%

High-Resolution Imaging by Adaptive Optics Scanning Laser Ophthalmoscopy Reveals Two Morphologically Distinct Types of Retinal Hard Exudates

Yamaguchi

Nakao

Kaizu

et al. 2016

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Histological studies from autopsy specimens have characterized hard exudates as a composition of lipid-laden macrophages or noncellular materials including lipid and proteinaceous substances (hyaline substances). However, the characteristics of hard exudates in living patients have not been examined due to insufficient resolution of existing equipment. In this study, we used adaptive optics scanning laser ophthalmoscopy (AO-SLO) to examine the characteristics of hard exudates in patients with retinal vascular diseases. High resolution imaging using AO-SLO enables morphological classification of retinal hard exudates into two types, which could not be distinguished either on fundus examination or by spectral domain optical coherence tomography (SD-OCT). One, termed a round type, consisted of an accumulation of spherical particles (average diameter of particles: 26.9 ± 4.4 μm). The other, termed an irregular type, comprised an irregularly shaped hyper-reflective deposition. The retinal thickness in regions with round hard exudates was significantly greater than the thickness in regions with irregular hard exudates (P = 0.01 →0.02). This differentiation of retinal hard exudates in patients by AO-SLO may help in understanding the pathogenesis and clinical prognosis of retinal vascular diseases.

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“…AO 시스템이 적용되지 않 았던 spectral domain optical coherence tomography에서는 intra scan retinal motion에 의한 이미지 뒤틀림에 의하여 주변부 원 뿔세포의 모자이크만 얻을 수 있었나, AO 시스템의 적용과 함 께 extremely high scan rates (300,000 A-scans/sec)가 가능해 지면서 중심부 원뿔세포의 관찰이 가능해졌다 (Fig. 4) [31,32]. …”

Section: Principles Of Ao-slounclassified

Principles of Adaptive Optics and Clinical Applications

Park

2017

J Retin

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The human retina is a uniquely accessible tissue. Tools like scanning laser ophthalmoscopy and spectral domain optical coherence tomography provide clinicians with remarkably clear pictures of the living retina. While the anterior optics of the eye permit such non-invasive visualization of the retina and associated pathology, these same optics induce significant aberrations that in most cases obviate cellular-resolution imaging. Adaptive optics (AO) imaging systems use active optical elements to compensate for aberrations in the optical path between the object and the camera. Applied to the human eye, AO allows direct visualization of individual rod and cone photoreceptor cells, Retina pigment epithelial cells and white blood cells. AO imaging has changed the way vision scientists and ophthalmologists see the retina, helping to clarify our understanding of retinal structure, function and the etiology of various retinal pathologies. Here we review some of the advances made possible with AO imaging of the human retina and discuss applications and future prospects for clinical imaging.

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Cone Photoreceptor Abnormalities Correlate With Vision Loss in a Case of Acute Posterior Multifocal Placoid Pigment Epitheliopathy

Cited by 5 publications

References 15 publications

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

High-Resolution Imaging by Adaptive Optics Scanning Laser Ophthalmoscopy Reveals Two Morphologically Distinct Types of Retinal Hard Exudates

Principles of Adaptive Optics and Clinical Applications

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