Isolated Foveal Hypoplasia

Curran, Robert Emmett; Robb, Richard M.

doi:10.1001/archopht.1976.03910030014005

Cited by 49 publications

(18 citation statements)

References 4 publications

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“…In our case, PAX6 was free from mutations and this may indicate that mutations in this gene may not be connected to isolated foveal hypoplasia cases and only restricted to cases of aniridia as previously indicated [7]. Defective development of the fovea has long been known to occur in patients with aniridia and albinism [2]. Since we could not find any ophthalmic or genetic evidence of either condition, our case can be labeled as an isolated foveal hypoplasia.…”

Section: Discussionsupporting

confidence: 53%

“…It may occur in isolation or in association with other conditions such as aniridia, albinism, achromatopsia, microphthalmos, retinopathy of prematurity (ROP), myopia, and incontinentia pigmenti (IP). The literature contains only a few reports of foveal hypoplasia as an isolated anatomical finding and the condition is considered rare [1,2,[4][5][6]8]. In all reported cases of foveal hypoplasia, there is a poor visual acuity and varying degrees of congenital nystagmus, but no evidence of aniridia or albinism.…”

Section: Introductionmentioning

confidence: 99%

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Isolated foveal hypoplasia: report of a new case and detailed genetic investigation

Al-Saleh¹,

Hellani

Abu-Amero

2011

Int Ophthalmol

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To carry out an ophthalmological and detailed genetic investigation on a 7-year-old boy with isolated foveal hypoplasia. A full ophthalmological examination and optical coherence tomography (OCT) was performed. We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be associated with aniridia. His eye examination was normal with no iris transillumination. A fundus examination, however, showed classic signs of foveal hypoplasia. A molecular genetic investigation showed no mutation(s) in all genes screened and no chromosomal deletion(s) and/or duplication(s) were detected. We report a case of isolated foveal hypoplasia where the underlying genetic cause could not be established. We could not rule out other genetic or epigenetic factors contributing to the pathogenesis of isolated foveal hypoplasia.

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Section: Discussionsupporting

confidence: 53%

Section: Introductionmentioning

confidence: 99%

Isolated foveal hypoplasia: report of a new case and detailed genetic investigation

Al-Saleh¹,

Hellani

Abu-Amero

2011

Int Ophthalmol

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“…Foveal hypoplasia is a disease of foveal immaturity that leads to the absence of a foveal depression and poor vision with nystagmus in most cases [1]. Foveal hypoplasia, which rarely occurs as an isolated entity, is associated with other ocular abnormalities such as aniridia, microphthalmia, albinism, and achromatopsia [2,3].…”

Section: Introductionmentioning

confidence: 99%

Outer retinal deformity detected by optical coherence tomography in eyes with foveal hypoplasia

Katagiri

Yamaguchi

Mikami

et al. 2016

Graefes Arch Clin Exp Ophthalmol

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“…[1][2][3][4][5] It is also described as part of Gillespie's syndrome, Aland disease, Hermansky-Pudlak syndrome, and Wolf-Hirschhorn syndrome. This report shows the variable expressivity of ocular associations of foveal hypoplasia in affected members of the same family.…”

Section: Introductionmentioning

confidence: 99%