Arrested development: High-resolution imaging of foveal morphology in albinism

McAllister, John T.; Dubis, Adam M.; Tait, Diane M.; Ostler, Shawn; Rha, Jungtae; Stepien, Kimberly E.; Summers, C. Gail; Carroll, Joseph

doi:10.1016/j.visres.2010.02.003

Cited by 122 publications

(114 citation statements)

References 56 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%

“…Despite the head posture, nystagmus persists and could correlate with vision loss; however, nystagmus could simply be a manifestation of abnormal structure of the visual pathway and not a primary determinant of reduced visual acuity. Others have investigated the cone photoreceptor mosaic in albinism with adaptive optics [15]. Some have used fMRI to evaluate the visual pathways in albinism and show reduced grey matter volume in the occipital lobes [23,24] and abnormal retinotopographic mapping [25,26].…”

Section: Subjects With Albinism Controls P-valuementioning

confidence: 99%

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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%

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

View full text Add to dashboard Cite

show abstract

“…5,10 Macular holes, 11 hemorrhagic retinoschisis, 12,13 vitreoretinal traction and epiretinal membranes 11,12 were identified in Shaken Baby Syndrome using OCT, and in some cases influenced surgical management. Hand-held SD-OCT was also valuable in characterizing foveal hypoplasia in the eyes of infants with ocular and oculocutaneous albinism 14,15 and in neonates with systemic diseases such as liver failure. 16 While hand-held SD-OCT may be performed during examination under anesthesia, anesthesia is not necessary to obtain useful images in infants and cooperative children.…”

Section: Introductionmentioning

confidence: 99%

Subfoveal fluid in healthy full-term newborns observed by handheld spectral domain optical coherence tomography

Cabrera¹,

O’Connell²,

Toth³

et al. 2012

Journal of American Association for Pediatric Ophthalmology and

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Purpose-To report retinal findings for healthy newborn infants imaged with hand held Spectral Domain Optical Coherence Tomography (SD-OCT). Design-Prospective observational case series.Methods-Thirty-nine full term newborn infants had dilated retinal examinations by indirect ophthalmoscopy and retinal imaging by handheld SD-OCT, without sedation, at the Duke Birthing Center.Results-Of the 39 infants imaged, 44% (17/39) were male. Race/ethnicity composition was 56% white, 38% black, 3% Asian, and 3% Hispanic. Median gestational age was 39 weeks (range 36 to 41). Six of the 39 infants (15%) had bilateral subfoveal fluid on SD-OCT not seen by indirect ophthalmoscopy. Eight infants (21%) had retinal hemorrhages noted on dilated retinal examination, 1 of which had subretinal fluid on SD-OCT. Subretinal fluid was noted on follow up examination to have resolved on SD-OCT 1 to 4 months later. Infants with bilateral subretinal fluid had an older gestational age compared to infants without subretinal fluid (median 40.4 vs. 39.1 weeks, respectively, P=0.03) and were more likely to have had mothers with diabetes (2/6 vs. 0/33, respectively, P=0.02). Vaginal versus C-section delivery was not significantly different between the two groups.Conclusions-Some healthy full term infants have bilateral subfoveal fluid not obvious on dilated retinal examination. This fluid resolves within several months. The visual significance of this finding is unknown, but clinicians should be aware it is common when evaluating newborn infants for retinal pathology using SD-OCT.

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“…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 development of the fovea. This has introduced various terminologies such as fovea plana, foveal dysgenesis and foveal aplasia to describe the structural variability associated with arrested development of the fovea.…”

mentioning

confidence: 99%

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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Arrested development: High-resolution imaging of foveal morphology in albinism

Cited by 122 publications

References 56 publications

The optic nerve and peripapillary vasculature in albinism

The optic nerve and peripapillary vasculature in albinism

Subfoveal fluid in healthy full-term newborns observed by handheld spectral domain optical coherence tomography

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

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