Abnormal Foveal Morphology in Ocular Albinism Imaged With Spectral-Domain Optical Coherence Tomography

Chong, Gabriel T.

doi:10.1001/archophthalmol.2008.550

Cited by 121 publications

(110 citation statements)

References 30 publications

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“…As all affected persons have some degree of foveal dysmorphology, this could explain reduced visual acuity from birth. Optical coherence tomography has further defined the arrest in foveal development [13][14][15][16]. However, it has recently been questioned whether foveal dysmorphology can completely account for the reduced visual acuity found in individuals with albinism [17][18][19].…”

Section: Subjects With Albinism Controls P-valuementioning

confidence: 99%

The optic nerve and peripapillary vasculature in albinism

Conley¹,

Mancera²,

Holleschau³

et al. 2016

New Front Ophthalmol

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Albinism, an inherited disorder resulting in reduced ocular melanin, is usually associated with reduced best-corrected visual acuity, nystagmus, foveal hypoplasia, and iris transillumination. However, a spectrum of findings has been reported, with foveal hypoplasia, nystagmus, and misrouting of the retinostriate fibers having been purported to cause reduced visual acuity. The purpose of this case-controlled study is to describe the optic nerve anatomy and peripapillary retinal vasculature in albinism and to determine if there are changes related to visual acuity. We evaluated digital fundus photographs using computer analysis software in 34 patients with albinism and 51 controls. Our data indicate that the optic disc diameter and optic nerve area are significantly smaller in patients with albinism than controls (p <0.001; p=0.0008, respectively). Significantly more patients with albinism also had a double ring sign, situs inversus, and a nasally-directed artery (p ≤ 0.0148). There were no significant differences between groups for optic nerve color, vessel branching pattern, cilioretinal artery, or number of vessels crossing the optic nerve margin. Correlation of best-corrected visual acuity to disc diameter and optic nerve area was poor (r=0.0542 r=0.1527, respectively). In this study, patients with albinism had mild optic nerve hypoplasia when compared to controls. Reduced best-corrected visual acuity is not explained by the optic nerve findings. Further studies are required to elucidate the causes of reduced best-corrected visual acuity in albinism.

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Section: Subjects With Albinism Controls P-valuementioning

confidence: 99%

The optic nerve and peripapillary vasculature in albinism

Conley¹,

Mancera²,

Holleschau³

et al. 2016

New Front Ophthalmol

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“…13 Chong et al also characterized the foveal morphological abnormalities in 2 patients with ocular albinism and 5 patients with suspected ocular albinism and reported that there were no foveal hyporeflectivity or tram tract sign in their study population. 14 Marmor et al noted a spectrum of different visual acuities in four patients that all lacked a foveal pit. Furthermore they showed that foveal cone specialisation, represented on OCT by the lengthening of the outer segment (OS) at the fovea, can be preserved even in the absence of a foveal pit.…”

mentioning

confidence: 97%

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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“…The use of this technology will provide a compact and cost-effective solution for high SNR, motion-corrected imaging of patients that are supine, under anesthesia, or unable to position. These include infants with variety of retinal diseases such as retinopathy of prematurity [12, 35,36] albinism [37], nystagmus [38], Shaken baby syndrome [15], and for imaging young children.…”

Section: Resultsmentioning

confidence: 99%

Handheld simultaneous scanning laser ophthalmoscopy and optical coherence tomography system

Larocca

Nankivil

Farsiu

et al. 2013

Biomed. Opt. Express

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Scanning laser ophthalmoscopy (SLO) and optical coherence tomography (OCT) are widely used retinal imaging modalities that can assist in the diagnosis of retinal pathologies. The combination of SLO and OCT provides a more comprehensive imaging system and a method to register OCT images to produce motion corrected retinal volumes. While high quality, bench-top SLO-OCT systems have been discussed in the literature and are available commercially, there are currently no handheld designs. We describe the first design and fabrication of a handheld SLO/spectral domain OCT probe. SLO and OCT images were acquired simultaneously with a combined power under the ANSI limit. High signalto-noise ratio SLO and OCT images were acquired simultaneously from a normal subject with visible motion artifacts. Fully automated motion estimation methods were performed in post-processing to correct for the inter-and intra-frame motion in SLO images and their concurrently acquired OCT volumes. The resulting set of reconstructed SLO images and the OCT volume were without visible motion artifacts. At a reduced field of view, the SLO resolved parafoveal cones without adaptive optics at a retinal eccentricity of 11° in subjects with good ocular optics. This system may be especially useful for imaging young children and subjects with less stable fixation.

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Abnormal Foveal Morphology in Ocular Albinism Imaged With Spectral-Domain Optical Coherence Tomography

Cited by 121 publications

References 30 publications

The optic nerve and peripapillary vasculature in albinism

The optic nerve and peripapillary vasculature in albinism

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

Handheld simultaneous scanning laser ophthalmoscopy and optical coherence tomography system

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