Optical coherence tomography is helpful in the diagnosis of foveal hypoplasia

Abstract

ABSTRACT.Purpose: To investigate whether optical coherence tomography (OCT) is helpful in the diagnosis of foveal hypoplasia in children. Methods: Children with albinism and aniridia were examined with Stratus OCT 3 software 4.0.1 (Carl Zeiss Meditec, Dublin, California, USA). A qualitative examination of the macular area was performed with a 128 A-scans ⁄ secondsingle-scan. Macular thickness was measured quantitatively with an automatic fast macular map protocol. The average thickness ⁄ volume of the macula was presented as numerical values and as a false colour code in nine modified early treatment of diabetic retinopathy study (ETDRS) areas (A1-A9). A previously collected control group of children was used for comparison. Results: Macular thickness in 13 children with albinism and three children with aniridia was measured with OCT. Comparison with healthy children in the same population was performed. Patients with albinism and aniridia had significantly thicker central macula (A1) and foveola than children in the control group. Conclusion: OCT was found to be useful in the diagnosis of foveal hypoplasia in children.

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

“…1,2 In the past decade, optical coherence tomography (OCT) has become the preferred methodology in the detection of foveal hypoplasia. 3 Foveal hypoplasia has been described to be associated with mutations in numerous genes causing a spectrum of ocular disorders. 2 PAX6 (MIM 607108) mutations have been shown to underlie isolated foveal hypoplasia, foveal hypoplasia and presenile cataract syndrome, as well as foveal hypoplasia with anterior segment anomalies (MIM 136520).…”

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

“…9 Recent studies have shown that OCT can be used as a diagnostic aid and prognostic indicator for the foveal hypoplasia. 4,10,11 In addition structural-functional correlation studies have been performed to document OCT findings in foveal hypoplasia although most of them were disease specific for albinism. Harvey et al showed a weak but significant correlation between macular thickness and visual acuity.…”

“…12 In contrast, Holmstrom et al did not find significant correlation between central macular thickness and visual acuity (VA). 10 Seo et al proposed a grading system for foveal hypoplasia in albinism, this was based on: (1) foveal hyporeflectivity, (2) choroidal transillumination, (3) tram tract sign and (4) foveal depression. They showed in 13 patients that visual acuity correlates well with degree of foveal hypoplasia.…”

Optical Coherence Tomography Angiography Findings in Isolated Foveal Hypoplasia

“…Foveal hypoplasia refers to a condition in which the foveal depression is not formed and all neurosensory retinal layers are observed in the area presumed to represent the fovea [1][2][3][4]. Foveal hypoplasia is associated with aniridia, albinism, microphthalmus, achromatopsia, and retinopathy of prematurity; however, it may also occur in isolation [1][2][3]5,6].…”

“…Foveal hypoplasia is associated with aniridia, albinism, microphthalmus, achromatopsia, and retinopathy of prematurity; however, it may also occur in isolation [1][2][3]5,6]. Development of the foveal pit begins at fetal week 25, and is completed by the fourth year after birth [7].…”