Foveal Fine Structure in Retinopathy of Prematurity: An Adaptive Optics Fourier Domain Optical Coherence Tomography Study

Hammer, Daniel X.; Iftimia, Nicusor; Ferguson, R. Daniel; Bigelow, Chad E.; Ustun, Teoman E.; Barnaby, Amber M.; Fulton, Anne B.

doi:10.1167/iovs.07-1228

Cited by 176 publications

(204 citation statements)

References 28 publications

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“…Although we have included four representative disorders associated with foveal hypoplasia we have not applied our grading system in patients with other forms of foveal hypoplasia such as nanophthalmos 19 and retinopathy of prematurity. 20 In our study population we find that VA correlates well with the grade of foveal hypoplasia, however validation of the grading scheme in larger cohorts is necessary.…”

Section: Discussionmentioning

confidence: 62%

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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: Discussionmentioning

confidence: 62%

“…20 In our study population we find that VA correlates well with the grade of foveal hypoplasia, however validation of the grading scheme in larger cohorts is necessary.…”

Section: Hhmi Author Manuscriptmentioning

confidence: 62%

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

et al. 2011

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“…5 OCT has revealed changes not evident on ophthalmoscopy, but these can be compatible with good visual acuity. 6,7,[9][10][11] Authors have questioned the possibility of a non-retinal aetiology for visual deficits, so examination of the choroid is warranted. 1 The choroid serves functions including metabolic support for the RPE and retina, acting as a heat sink, and absorbing excess light.…”

Section: Discussionmentioning

confidence: 99%

“…Studies have shown shallowing of the foveal depression, thickening of the central macula, and a continuity of inner retinal layers across the fovea in those born severely preterm, often despite normal macular appearance on ophthalmoscopy. [6][7][8][9][10][11][12][13][14] However, these macular changes evident on OCT are still compatible with good visual acuity. 6,7,[9][10][11] This has prompted authors to suggest that other factors might be contributory to the variation in vision seen in these patients.…”

Section: Introductionmentioning

confidence: 98%

Choroidal thickness in regressed retinopathy of prematurity

Anderson

Ramasamy

Lythgoe

et al. 2014

Eye

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Purpose To compare choroidal thickness in patients with regressed retinopathy of prematurity (ROP) with healthy controls using enhanced depth imaging optical coherence tomography (EDI OCT) Methods Twenty-four children and young adults (41 eyes) with regressed ROPZstage 3 had undergone EDI OCT with Spectralis FD-OCT as part of their clinical record. Their refraction, best-corrected visual acuity, and ophthalmoscopic findings were recorded. Corresponding data was collected prospectively from 33 healthy controls (58 eyes) who had been born at term. Choroidal thickness was measured independently by two observers subfoveally and at 1500 mm nasal and temporal to the fovea using EDI OCT. Results Mean subfoveal choroidal thickness, adjusted for refraction, was 271.1 mm (95% CI, 247.8-294.5) in the ex-ROP group, which was significantly thinner than 327.4 mm (95% CI, 293.8-360.9) in controls (P ¼ 0.008). Similarly, mean adjusted temporal choroidal thickness was 257.2 mm (95% CI, 240.2-274.2) in ex-ROP's vs 320.5 mm (95% CI, 288.6-352.3) in controls (P ¼ 0.001). There was no statistically significant difference in the nasal measurement. In the ex-ROP group, there was no significant correlation between subfoveal choroidal thickness and gestational age (r s ¼ 0.16, P ¼ 0.46) or birthweight (r s ¼ 0.03, P ¼ 0.90). In eyes without copathology in addition to regressed ROP (29 eyes, 19 patients), there was no significant correlation between subfoveal choroidal thickness and visual acuity. Conclusions Our findings of thinner subfoveal and temporal macular choroidal thickness in regressed ROP support the case for choroidal involvement in the pathogenesis of this condition.

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“…2 Infantile nystagmus has also been described in association with afferent defects such as foveal hypoplasia, aniridia and iris hypoplasia. 8,9 Foveal hypoplasia is typically associated with PAX6 mutations, 9 albinism 10 and retinopathy of prematurity, 11 whereas atypical forms of foveal hypoplasia have been associated with achromatopsia. [12][13][14] Previous studies have also described foveal hypoplasia as being without an identifiable genetic cause.…”

Section: Introductionmentioning

confidence: 99%

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

et al. 2013

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Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C4G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The aminoacid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation.

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Foveal Fine Structure in Retinopathy of Prematurity: An Adaptive Optics Fourier Domain Optical Coherence Tomography Study

Abstract: The foveas of subjects with a history of mild ROP have significant structural abnormalities that are probably a consequence of perturbations of neurovascular development.

Cited by 176 publications

References 28 publications

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

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

Choroidal thickness in regressed retinopathy of prematurity

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

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