The Functional Significance of Foveal Abnormalities in Albinism Measured Using Spectral-Domain Optical Coherence Tomography

Mohammad, Sarim; Gottlob, Irène; Kumar, Anil; Thomas, Mervyn G; Degg, C.; Sheth, Viral; Proudlock, Frank A

doi:10.1016/j.ophtha.2011.01.037

Cited by 104 publications

(71 citation statements)

References 23 publications

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“…The mean total foveal thickness of the participants with albinism in our study was slightly thinner than that reported by Mohammad et al 21 in a group of 47 subjects with albinism (309 6 24.0 lm). This may reflect the different OCT instrumentation used in our study.…”

Section: Foveal Thicknesscontrasting

confidence: 79%

Investigating the Relationship Between Foveal Morphology and Refractive Error in a Population With Infantile Nystagmus Syndrome

Healey¹,

McLoone²,

Mahon³

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. We explored associations between refractive error and foveal hypoplasia in infantile nystagmus syndrome (INS). METHODS.We recruited 50 participants with INS (albinism n ¼ 33, nonalbinism infantile nystagmus [NAIN] n ¼ 17) aged 4 to 48 years. Cycloplegic refractive error and logMAR acuity were obtained. Spherical equivalent (SER), most ametropic meridian (MAM) refractive error, and better eye acuity (VA) were used for analyses. High resolution spectral-domain optical coherence tomography (SD-OCT) was used to obtain foveal scans, which were graded using the Foveal Hypoplasia Grading Scale. Associations between grades of severity of foveal hypoplasia, and refractive error and VA were explored. RESULTS.Participants with more severe foveal hypoplasia had significantly higher MAMs and SERs (Kruskal-Wallis H test P ¼ 0.005 and P ¼ 0.008, respectively). There were no statistically significant associations between foveal hypoplasia and cylindrical refractive error (KruskalWallis H test P ¼ 0.144). Analyses demonstrated significant differences between participants with albinism or NAIN in terms of SER and MAM (Mann-Whitney U test P ¼ 0.001). There were no statistically significant differences between astigmatic errors between participants with albinism and NAIN. Controlling for the effects of albinism, results demonstrated no significant associations between SER, and MAM and foveal hypoplasia (partial correlation P > 0.05). Poorer visual acuity was associated statistically significantly with more severe foveal hypoplasia (Kruskal-Wallis H test P ¼ 0.001) and with a diagnosis of albinism (Mann-Whitney U test P ¼ 0.001).CONCLUSIONS. Increasing severity of foveal hypoplasia is associated with poorer VA, reflecting reduced cone density in INS. Individuals with INS also demonstrate a significant association between more severe foveal hypoplasia and increasing hyperopia. However, in the absence of albinism, there is no significant relation between refractive outcome and degree of foveal hypoplasia, suggesting that foveal maldevelopment in isolation does not impair significantly the emmetropization process. It likely is that impaired emmetropization evidenced in the albinism group may be attributed to the whole eye effect of albinism.

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Section: Foveal Thicknesscontrasting

confidence: 79%

Investigating the Relationship Between Foveal Morphology and Refractive Error in a Population With Infantile Nystagmus Syndrome

Healey¹,

McLoone²,

Mahon³

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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“…9,10 Recent studies of foveal hypoplasia analyzing retinal layer structure and thickness using SD-OCT have shown better agreement between foveal structural abnormalities and visual acuity than retinal layer thickness and visual acuity. 16,17 Visual acuity was abnormal in many children in this study, but a mixed model analysis failed to find a significant association between visual acuity and foveal structure. Previous studies using multifocal electroretinography have reported that even in mild ROP, the most pronounced functional deficits were found in central regions.…”

Section: Retinal Layer Thicknessesmentioning

confidence: 53%

Analysis of Spectral-Domain Optical Coherence Tomography in Preterm Children: Retinal Layer Thickness and Choroidal Thickness Profiles

Park¹,

Oh²

2012

Invest. Ophthalmol. Vis. Sci.

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“…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]. The presence of granular melanin pigment in the retinal pigment epithelium has been associated with better vision in albinism, so presence or absence of macular pigment could also play a role [20][21][22].…”

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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The Functional Significance of Foveal Abnormalities in Albinism Measured Using Spectral-Domain Optical Coherence Tomography

Cited by 104 publications

References 23 publications

Investigating the Relationship Between Foveal Morphology and Refractive Error in a Population With Infantile Nystagmus Syndrome

Investigating the Relationship Between Foveal Morphology and Refractive Error in a Population With Infantile Nystagmus Syndrome

Analysis of Spectral-Domain Optical Coherence Tomography in Preterm Children: Retinal Layer Thickness and Choroidal Thickness Profiles

The optic nerve and peripapillary vasculature in albinism

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