Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia

Litts, Katie M.; Woertz, Erica N.; Georgiou, Michalis; Patterson, Emily J; Lam, Byron L.; Fishman, Gerald A.; Pennesi, Mark E.; Kay, Christine N.; Hauswirth, William W.; Michaelides, Michel; Carroll, Joseph

doi:10.1167/tvst.10.1.11

Cited by 11 publications

(3 citation statements)

References 39 publications

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“…Massive improvements have been made in ophthalmological imaging, not just in resolution, but also in applications and options available to imaging technicians [ 160 ]. These techniques help refine phenotypes and can inform whether or not more advanced forms of imagery may be useful for particular patients [ 161 ]. Machine learning (ML) is a branch of artificial intelligence that focuses on the concept that systems can learn from training data, such as expert-reviewed fundus images of IRD patients, and thereby learn to identify these patterns independently.…”

Section: Impacts On Ird Diagnosis Outside Of Ngs Testingmentioning

confidence: 99%

Next-Generation Sequencing Applications for Inherited Retinal Diseases

Dockery

Whelan

Humphries

et al. 2021

IJMS

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Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. Resolving a genetic diagnosis with thorough testing enables a more accurate diagnosis and more informed prognosis and should also provide information on inheritance patterns which may be of particular interest to patients of a child-bearing age. Given that IRDs are heritable conditions, genetic counselling may be offered to help inform family planning, carrier testing and prenatal screening. Additionally, a verified genetic diagnosis may enable access to appropriate clinical trials or approved medications that may be available for the condition.

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Section: Impacts On Ird Diagnosis Outside Of Ngs Testingmentioning

confidence: 99%

Next-Generation Sequencing Applications for Inherited Retinal Diseases

Dockery

Whelan

Humphries

et al. 2021

IJMS

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“…A final contributing factor has to do with the challenges in imaging individuals with nystagmus – OCT images from individuals with ACHM can often have a number of artifacts. 34 It is important to understand how these artifacts might alter our interpretation of what is really happening to specific retinal layers. This is especially relevant to measures of the HRZ width, as horizontal eye motion during B-scan acquisition can result in an apparent narrowing or widening of the HRZ.…”

Section: Discussionmentioning

confidence: 99%

Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia

Grissim,

Walesa,

Follett

et al. 2024

Invest. Ophthalmol. Vis. Sci.

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Purpose Achromatopsia (ACHM) is an autosomal recessive retinal disease associated with reduced or absent cone function. There is debate regarding the extent to which cone structure shows progressive degeneration in patients with ACHM. Here, we used optical coherence tomography (OCT) images to evaluate outer nuclear layer (ONL) thickness and ellipsoid zone (EZ) integrity over time in individuals with ACHM. Methods Sixty-three individuals with genetically confirmed ACHM with follow-up ranging from about 6 months to 10 years were imaged using either Bioptigen or Cirrus OCT. Foveal cone structure was evaluated by assessing EZ integrity and ONL thickness. Results A total of 470 OCT images were graded, 243 OD and 227 OS. The baseline distribution of EZ grades was highly symmetrical between eyes ( P = 0.99) and there was no significant interocular difference in baseline ONL thickness ( P = 0.12). The EZ grade remained unchanged over the follow-up period for 60 of 63 individuals. Foveal ONL thickness showed a clinically significant change in only 1 of the 61 individuals analyzed, although detailed adaptive optics imaging revealed no changes in cone density in this individual. Conclusions ACHM appears to be a generally stable condition, at least over the follow-up period assessed here. As cones are the cellular targets for emerging gene therapies, stable EZ and ONL thickness demonstrate therapeutic potential for ACHM, although other aspects of the visual system need to be considered when determining the best timing for therapeutic intervention.

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“…Additionally, there is greater representation of participants with less severe foveal hypoplasia in this study, likely because subject factors associated with more severe foveal hypoplasia (such as visual acuity or nystagmus) can influence retinal imaging success. 45 Finally, the cohort included both children and adults and so cannot provide any conclusions about differences between foveal structure or BCVA in early childhood versus adulthood. This may also limit our model's accuracy when using foveal structure in childhood to predict adult visual acuity, particularly because foveal structure is known to evolve at least until the age of three or four years old.…”

Section: Discussionmentioning

confidence: 99%

Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism

Woertz,

Ayala,

Wynne

et al. 2024

Invest. Ophthalmol. Vis. Sci.

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Purpose To assess the degree to which quantitative foveal structural measurements account for variation in best-corrected visual acuity (BCVA) in human albinism. Methods BCVA was measured and spectral domain optical coherence tomography (SD-OCT) images were acquired for 74 individuals with albinism. Categorical foveal hypoplasia grades were assessed using the Leicester Grading System for Foveal Hypoplasia. Foveal anatomical specialization (foveal versus parafoveal value) was quantified for inner retinal layer (IRL) thickness, outer segment (OS) length, and outer nuclear layer (ONL) thickness. These metrics, participant sex, and age were used to build a multiple linear regression of BCVA. This combined linear model's predictive properties were compared to those of categorical foveal hypoplasia grading. Results The cohort included three participants with type 1a foveal hypoplasia, 23 participants with type 1b, 33 with type 2, ten with type 3, and five with type 4. BCVA ranged from 0.08 to 1.00 logMAR (mean ± SD: 0.53 ± 0.21). IRL ratio, OS ratio, and ONL ratio were measured in all participants and decreased with increasing severity of foveal hypoplasia. The best-fit combined linear model included all three quantitative metrics and participant age expressed as a binary variable (divided into 0–18 years and 19 years or older; adjusted R 2 = 0.500). This model predicted BCVA more accurately than a categorical foveal hypoplasia model (adjusted R 2 = 0.352). Conclusions A quantitative model of foveal specialization accounts for more variance in BCVA in albinism than categorical foveal hypoplasia grading. Other factors, such as optical aberrations and eye movements, may account for the remaining unexplained variance.

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Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia

Cited by 11 publications

References 39 publications

Next-Generation Sequencing Applications for Inherited Retinal Diseases

Next-Generation Sequencing Applications for Inherited Retinal Diseases

Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia

Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism

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