Analysis of White and Dark without Pressure in a Young Myopic Group Based on Ultra-Wide Swept-Source Optical Coherence Tomography Angiography

Yu, Huimin; Luo, Hui; Zhang, Xian; Sun, Jinfu; Zheng, Zhong; Sun, Xiaoxia

doi:10.3390/jcm11164830

Cited by 6 publications

(4 citation statements)

References 30 publications

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“…Finally, the retinal sheen and OCT reflectivity changes we observed in our cohort also demonstrate similarities to the white-without-pressure (WWOP) and dark-without-pressure (DWOP) phenomena that occur in the midperipheral and far peripheral areas of the fundus. 39 , 40 The WWOP lesions exhibit increased reflectivity in the EZ, photoreceptor outer segment, and interdigitation zone regions on OCT, whereas DWOP lesions exhibit decreased reflectivity in these regions. 39 Despite the clinical impression that these lesions arise from vitreoretinal interface abnormalities, this has not been confirmed on OCT imaging, suggesting an alternate etiology.…”

Section: Discussionmentioning

confidence: 99%

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RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

Benson,

Mukherjee,

Agather

et al. 2023

Invest. Ophthalmol. Vis. Sci.

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Purpose To describe a group of patients with retinitis pigmentosa GTPase regulator ( RPGR )-related retinopathy with a tapetal-like retinal sheen and corresponding changes in the reflectivity of the ellipsoid zone on optical coherence tomography (OCT) imaging. Methods A retrospective case series of 66 patients with a disease-causing variant in RPGR was performed. An expert examiner, masked to patient demographics, clinical evaluations, and specific RPGR variant, analyzed color fundus photographs for the presence of a tapetal-like retinal sheen and assessed OCT images for the presence of an abnormally broad hyper-reflective band in the outer retina. Longitudinal reflectivity profiles were generated and compared with healthy controls. Results Twelve patients (18.2%) had a retinal sheen on color images that cosegregated with an abnormally broad hyper-reflective ellipsoid zone band on OCT imaging. Three-fourths of these patients were male, had a cone–rod dystrophy, and had pathogenic RPGR variants located toward the 3′-end of ORF15. This group had a different longitudinal reflectivity profile signature compared with controls. After a period of prolonged dark adaptation, the abnormal hyper-reflective band on OCT became less apparent, and the outer retinal layers adopted a more normal appearance. Conclusions RPGR -related retinopathy should be considered for males presenting with retinal sheen, abnormal ellipsoid zone hyper-reflectivity, and cone or cone–rod dysfunction on ERG, and pursued with molecular testing. Our results have implications for understanding the role of the C-terminal domain encoded by RPGR ORF15 in the phototransduction cascade. Further, the findings may be important to incorporate into both inclusion criteria and outcome measure developments in future RPGR -related cone or cone–rod dystrophy clinical trials.

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Section: Discussionmentioning

confidence: 99%

“… 39 Despite the clinical impression that these lesions arise from vitreoretinal interface abnormalities, this has not been confirmed on OCT imaging, suggesting an alternate etiology. 39 , 40 …”

Section: Discussionmentioning

confidence: 99%

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

Benson,

Mukherjee,

Agather

et al. 2023

Invest. Ophthalmol. Vis. Sci.

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“…VG200S was used to perform and analyze the retinal microstructure as previously reported. 17 – 19 In our study, the macular structure was assessed using the Macular Raster mode on the SS-OCT machine, which involved the acquisition of 33 Horizontal B scans. To ensure precision and consistency, we carefully selected the B-scan containing the macular foveola for manual measurements.…”

Section: Methodsmentioning

confidence: 99%

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials

Jin,

Li,

Jiang

et al. 2024

Invest. Ophthalmol. Vis. Sci.

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Purpose The purpose of this study was to investigate the genotypic and phenotypic characteristics of CRB1-associated early onset retinal dystrophy (CRB1-eoRD) and retinal architecture by swept-source optical coherence tomography (SS-OCT). Methods Eleven probands with CRB1-eoRD were recruited. Clinical information, genetic analysis, and comprehensive ophthalmic examinations including SS-OCT and SS-OCT angiography (SS-OCTA) were conducted. Results A total of 81.8% (9/11) of CRB1-eoRD presented as Leber congenital amaurosis (LCA). Common clinical manifestations included coin-like yellow-white retinal spots (20/22, 90.9%) and para-arteriolar retinal pigment epithelial retention (12/22, 54.5%). Nineteen different CRB1 variants were detected in our case series, including 12 missense, 3 frameshifts, 3 nonsense, and 1 splicing. Of them, 12 variants had been reported, and 7 were novel. SS-OCT showed thinner central macula (the LCA group, P < 0.0001), thicker total retina ( P < 0.0001), thinner outer retina ( P < 0.05), and thicker inner retina ( P < 0.0001) compared with the healthy control. The inner/outer (I/O) retina thickness ratio of CRB1-eoRD was 3.0, higher than the healthy control of 1.2 and other inherited retinal diseases (IRDs) of 2.2 ( P < 0.0001 and P = 0.0027, respectively). SS-OCTA revealed an increased vascular density and perfusion area of the superficial vascular complex and deep vascular complex in CRB1-eoRD. Conclusions LCA emerges as a frequently occurring phenotype in CRB1-eoRD. The unique features of SS-OCT and SS-OCTA are illustrated, and the novel biomarker, I/O ratio, may facilitate early diagnosis. The insights gained from this study hold significant value in determining the treatment window for potential forthcoming CRB1 gene therapy.

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“…Dark without pressure (DWOP) is defined as a hypopigmented lesion region with the border of DWOP corresponding to the site where the ellipsoid zone has faded or disappeared (Figure 5). 10 It is typically asymptomatic and benign, without need for prophylactic laser.…”

Section: Dark Without Pressurementioning

confidence: 99%

Peripheral Retinal Diseases: Indications for Prophylactic Laser Treatment Versus Observation

Dookeran,

Wahab

2024

Can Eye Care Today

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Peripheral retinal diseases encompass a diverse group of conditions that can impact visual health and function. While some of these conditions are asymptomatic and may have a benign course, others can progress to potentially sight-threatening complications, such as retinal detachment, especially in the context of visual symptoms. Careful clinical evaluation and timely intervention are essential in managing peripheral retinal diseases to prevent loss of visual acuity, particularly when predisposing risk factors are present. Obtaining a proper history may help identify some genetic conditions associated with higher incidence of retinal tears and detachment such as high myopia or Stickler syndrome. Other factors to consider include the new onset of symptoms of posterior vitreous detachment, prior history of trauma or relatively recent intraocular surgery such as cataract surgery, intravitreal injection or YAG capsulotomy.

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Analysis of White and Dark without Pressure in a Young Myopic Group Based on Ultra-Wide Swept-Source Optical Coherence Tomography Angiography

Cited by 6 publications

References 30 publications

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials

Peripheral Retinal Diseases: Indications for Prophylactic Laser Treatment Versus Observation

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