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

Thomas, Mervyn G; Kumar, Anil; Mohammad, Sarim; Proudlock, Frank A; Engle, Elizabeth C.; Andrews, Caroline; Chan, Wai‐Man; Stiefmeier, Thomas; Gottlob, Irène

doi:10.1016/j.ophtha.2011.01.028

Cited by 369 publications

(450 citation statements)

References 21 publications

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“…Small children may need to be examined under anaesthesia. Optical coherence tomography may be used to document foveal hypoplasia, 48 but is difficult to perform in the presence of nystagmus and in young children. In infants with corneal opacity or severe corneal oedema due to congenital glaucoma, high frequency anterior segment ultrasound examination can demonstrate iris hypoplasia or aplasia.…”

Section: Clinical Diagnosismentioning

confidence: 99%

Aniridia

Hingorani

Hanson²,

Heyningen³

2012

Eur J Hum Genet

206

224

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Section: Clinical Diagnosismentioning

confidence: 99%

Aniridia

Hingorani

Hanson²,

Heyningen³

2012

Eur J Hum Genet

206

224

View full text Add to dashboard Cite

“…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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“…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%

“…[12][13][14] Previous studies have also described foveal hypoplasia as being without an identifiable genetic cause. 8,15 We identified a large multigenerational white British family with a predominant phenotype of infantile nystagmus and presenile cataract segregating in an autosomal-dominant pattern. In this study, we have characterised the genotype and undertaken a linkage analysis and bidirectional Sanger sequencing.…”

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

Cited by 369 publications

References 21 publications

Aniridia

Aniridia

The optic nerve and peripapillary vasculature in albinism

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

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