Early cone photoreceptor outer segment length shortening in RPGR X-linked retinitis pigmentosa

2020 ◽  
Author(s):  
Moreno Menghini ◽  
Jasleen K. Jolly ◽  
Anika Nanda ◽  
Laura Wood ◽  
Jasmina Cehajic-Kapetanovic ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Outer Segment ◽  
Segment Length ◽  
Cone Photoreceptor ◽  
Photoreceptor Outer Segment

scholarly journals Macular Pigment Optical Density and Photoreceptor Outer Segment Length as Predisease Biomarkers for Age-Related Macular Degeneration

2020 ◽  
Vol 9 (5) ◽  
pp. 1347 ◽  
Author(s):  
Norihiro Nagai ◽  
Sakiko Minami ◽  
Misa Suzuki ◽  
Hajime Shinoda ◽  
Toshihide Kurihara ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Optical Density ◽  
Outer Segment ◽  
Macular Pigment ◽  
Age Related Macular Degeneration ◽  
Segment Length ◽  
Macular Pigment Optical Density ◽  
Photoreceptor Outer Segment ◽  
Age Related ◽  
Fellow Eyes

To explore predisease biomarkers, which may help screen for the risk of age-related macular degeneration (AMD) at very early stages, macular pigment optical density (MPOD) and photoreceptor outer segment (PROS) length were analyzed. Thirty late AMD fellow eyes, which are at high risk and represent the predisease condition of AMD, were evaluated and compared with 30 age-matched control eyes without retinal diseases; there was no early AMD involvement in the AMD fellow eyes. MPOD was measured using MPS2® (M.E. Technica Co. Ltd., Tokyo, Japan), and PROS length was measured based on optical coherence tomography images. MPOD levels and PROS length in the AMD fellow eyes were significantly lower and shorter, respectively, than in control eyes. MPOD and PROS length were positively correlated in control eyes (R = 0.386; p = 0.035) but not in AMD fellow eyes. Twenty (67%) AMD fellow eyes met the criteria of MPOD < 0.65 and/or PROS length < 35 μm, while only five (17%) control eyes did. After adjusting for age and sex, AMD fellow eyes more frequently satisfied the definition (p < 0.001; 95% confidence interval, 3.50–60.4; odds ratio, 14.6). The combination of MPOD and PROS length may be a useful biomarker for screening predisease AMD patients, although further studies are required in this regard.

scholarly journals SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

2020 ◽  
Vol 29 (18) ◽  
pp. 2989-3002 ◽  
Author(s):  
Helen J Kuht ◽  
Jinu Han ◽  
Gail D E Maconachie ◽  
Sung Eun Park ◽  
Seung-Tae Lee ◽  
...  
Keyword(s):  
Outer Segment ◽  
Transmembrane Domain ◽  
Retinal Development ◽  
Anterior Segment ◽  
Cone Photoreceptor ◽  
Photoreceptor Outer Segment ◽  
Multi Centre Study ◽  
Photoreceptor Layer ◽  
Foveal Hypoplasia

Abstract Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a custom-targeted next generation sequencing (NGS) gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. We report 16 novel SLC38A8 mutations. The sixth transmembrane domain is most frequently disrupted by missense SLC38A8 mutations. Ninety percent of our cases were initially misdiagnosed as PAX6-related phenotype or ocular albinism prior to NGS. We characterized the retinal development in vivo in patients with SLC38A8 mutations using high-resolution optical coherence tomography. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity. Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal development at an earlier stage resulting in a more under-developed retina and severe phenotype.

scholarly journals Acute Zonal Cone Photoreceptor Outer Segment Loss

2017 ◽  
Vol 135 (5) ◽  
pp. 487 ◽  
Author(s):  
Tomas S. Aleman ◽  
Harpal S. Sandhu ◽  
Leona W. Serrano ◽  
Anastasia Traband ◽  
Marisa K. Lau ◽  
...  
Keyword(s):  
Outer Segment ◽  
Cone Photoreceptor ◽  
Photoreceptor Outer Segment

scholarly journals Comparison of photoreceptor outer segment length in diabetic and idiopathic epiretinal membranes

Eye ◽  
2015 ◽  
Vol 29 (11) ◽  
pp. 1446-1452 ◽  
Author(s):  
K Yüksel ◽  
Y Karaküçük ◽  
A Özkaya ◽  
G Pekel ◽  
Ö Baz ◽  
...  
Keyword(s):  
Outer Segment ◽  
Segment Length ◽  
Photoreceptor Outer Segment ◽  
Epiretinal Membranes

scholarly journals RELATIONSHIP BETWEEN PHOTORECEPTOR OUTER SEGMENT LENGTH AND VISUAL ACUITY IN DIABETIC MACULAR EDEMA

Retina ◽  
2010 ◽  
Vol 30 (1) ◽  
pp. 63-70 ◽  
Author(s):  
FARZIN FOROOGHIAN ◽  
PAUL F. STETSON ◽  
SCOTT A. MEYER ◽  
EMILY Y. CHEW ◽  
WAI T. WONG ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Macular Edema ◽  
Diabetic Macular Edema ◽  
Outer Segment ◽  
Segment Length ◽  
Photoreceptor Outer Segment

scholarly journals The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival

2017 ◽  
Vol 58 (1) ◽  
pp. 448 ◽  
Author(s):  
Emma M. Lessieur ◽  
Joseph Fogerty ◽  
Robert J. Gaivin ◽  
Ping Song ◽  
Brian D. Perkins
Keyword(s):  
Outer Segment ◽  
Cone Photoreceptor ◽  
Photoreceptor Outer Segment
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