Quantitative Analysis of OCT Characteristics in Patients with Achromatopsia and Blue-Cone Monochromatism

Barthelmes, Daniel; Sutter, Florian; Kurz–Levin, M.; Bosch, Martina M.; Helbig, Horst; Niemeyer, G.; Fleischhauer, Johannes

doi:10.1167/iovs.05-0783

Cited by 62 publications

(48 citation statements)

References 34 publications

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Section: Optical Coherence Tomography Image Acquisitionmentioning

confidence: 99%

“…Intra-retinal thickness measurements were obtained using reflectivity profiles as described elsewhere. 15 The thickness measurements derived from both eyes were averaged and subsequently analysed similar to a one-eye study design as described by Ray et al 16 Grading foveal hypoplasiaThe rationale behind the grading system we adopted was based on the unique developmental processes occurring at the fovea (figure 1). During development of the fovea there is (i) centrifugal displacement of cells of the inner retina towards the periphery, (ii) centripetal migration of cone photoreceptors towards the location of the incipient fovea and (iii) cone specialization of the foveolar cones.…”

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Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

et al. 2011

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Purpose-We aimed to characterize and grade the spectrum of foveal hypoplasia based on different stages of arrested development of the fovea. Grading was performed using morphological findings obtained by ultrahigh resolution spectral domain optical coherence tomography (UHR-OCT). Best corrected visual acuity (BCVA) was calculated for different grades. Design-Observational Case SeriesParticipants and Controls-Sixty-nine patients with foveal hypoplasia (albinism (n=34), PAX6 mutations (n=10), isolated cases (n=14), achromatopsia (n=11)) and 65 control subjects were examined.Methods-A 7x7mm retinal area was sampled using a 3-dimensional scanning protocol (743x75; AxB scans) with UHR-OCT (SOCT Copernicus HR, 3μm axial resolution). Gross morphological abnormalities were documented. B-scans at the fovea were segmented using a longitudinal reflectivity profile. Logarithm of Minimum Angle of Resolution (LogMAR) BCVA was obtained.Main Outcome Measures-Grading was based on presence or absence of foveal pit, widening of outer nuclear layer (ONL) and outer segment (OS) at the fovea. Quantitative measurements were performed for comparing atypical foveal hypoplasia in achromatopsia. BCVA was compared to the grade of foveal hypoplasia Results-Four grades of foveal hypoplasia were distinguished grade 1: shallow foveal pit, presence of ONL widening, presence of OS lengthening; grade 2: grade 1 but absence of foveal pit, grade 3: grade 2 but absence of OS lengthening; grade 4: grade 3 but absence of ONL widening). There was significant difference in visual acuity (VA) associated with each grade (p<0.0001). Grade 1 was associated with the best VA (median VA = 0.2), while grade 2, 3 and 4 was associated with progressively poorer VA with a median VA of 0. 44, 0.60 and 0.78 Correspondence and address for reprints: Professor Irene Gottlob (ig15@le.ac.uk) HHMI Author ManuscriptHHMI Author Manuscript HHMI Author Manuscript respectively. The atypical features seen with foveal hypoplasia associated with achromatopsia were characterized by decreased retinal (RT) and ONL thickness and deeper foveal depth (FD).Conclusions-We have developed a structural grading system for foveal hypoplasia based on the stage at which foveal development was arrested, which helps to provide a prognostic indicator for VA and is applicable in a range of disorders associated with foveal hypoplasia. Atypical foveal hypoplasia in achromatopsia shows different characteristics.Normal foveal development occurs in stages where the pit formation for the incipient fovea starts at fetal week 25 and the excavation is complete 15-45 months after birth. 1 Disruption of this developmental process leads to foveal hypoplasia which is a characteristic morphological abnormality associated with conditions such as albinism, PAX6 mutations or it may occur in isolation. [2][3][4][5] With the advent of optical coherence tomography (OCT) it is now possible to document the varying degrees of foveal hypoplasia which are likely to represent the different stages of arrested deve...

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Section: Optical Coherence Tomography Image Acquisitionmentioning

confidence: 99%

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confidence: 99%

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

et al. 2011

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“…1) results in a curve (light reflectivity profile [LRP]) with six distinct peaks, hereafter referred to as P1 to P6. 10,11 Compared with retinal anatomy, 12 these peaks represent the retinal pigment epithelium (P1), a highly reflective layer between inner and outer segments of photoreceptors (P2), the external limiting membrane (P3), the outer plexiform layer (P4), the inner plexiform layer, (P5) and the nerve-fiber layer/vitreoretinal interface (P6). It has been suggested that P2 arises from tightly packed mitochondria in the ellipsoid region of the photoreceptors.…”

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“…It has been suggested that P2 arises from tightly packed mitochondria in the ellipsoid region of the photoreceptors. 10 Because of its unique anatomy, the fovea lacks P4 and P5. The visibility of these peaks is crucial for image interpretation.…”

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Impact of Optic Media Opacities and Image Compression on Quantitative Analysis of Optical Coherence Tomography

Tappeiner¹,

Barthelmes²,

Abegg³

et al. 2008

Invest. Ophthalmol. Vis. Sci.

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To analyze the impact of opacities in the optical pathway and image compression of 32-bit raw data to 8-bit jpg images on quantified optical coherence tomography (OCT) image analysis. METHODS: In 18 eyes of nine healthy subjects, OCT images were acquired from the central macula.To simulate opacities in the optical system, neutral-density (ND) filters with linear absorption spectra were placed between the OCT device and examined eyes. Light reflection profiles (LRPs) of images acquired with various ND filters were compared. LRPs of the 32-bit raw data were compared with those obtained from the 8-bit jpg compressed images. RESULTS: ND filters induced a linear decrease of reflectivity in OCT images, depending on initial signal intensity. Quantitative OCT analysis showed no significant difference between 32-bit raw data and 8-bit jpg files (P > 0.05). CONCLUSIONS: Quantitative OCT analysis is not significantly influenced by data compression. A mathematical model can correct for optical opacities to improve OCT images.

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Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

et al. 2018

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Biallelic PDE6C mutations are a known cause for rod monochromacy, better known as autosomal recessive achromatopsia (ACHM), and early-onset cone photoreceptor dysfunction. PDE6C encodes the catalytic α'-subunit of the cone photoreceptor phosphodiesterase, thereby constituting an essential part of the phototransduction cascade. Here, we present the results of a study comprising 176 genetically preselected patients who remained unsolved after Sanger sequencing of the most frequent genes accounting for ACHM, and were subsequently screened for exonic and splice site variants in PDE6C applying a targeted next generation sequencing approach. We were able to identify potentially pathogenic biallelic variants in 15 index cases. The mutation spectrum comprises 18 different alleles, 15 of which are novel. Our study significantly contributes to the mutation spectrum of PDE6C and allows for a realistic estimate of the prevalence of PDE6C mutations in ACHM since our entire ACHM cohort comprises 1,074 independent families.

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Quantitative Analysis of OCT Characteristics in Patients with Achromatopsia and Blue-Cone Monochromatism

Cited by 62 publications

References 34 publications

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

Impact of Optic Media Opacities and Image Compression on Quantitative Analysis of Optical Coherence Tomography

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

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