автомобильный интернет магазин новосибирск каталог
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автомобильный интернет магазин новосибирск каталог, Foveal Hypoplasia - EyeWiki, Isolated Foveal Hypoplasia: Clinical Presentation and Imagin , Clinical spectrum of blunted foveal contour - PMC, Genotypic and Phenotypic Spectrum of Foveal Hypoplasia, Foveal Hypoplasia: Causes & Symptoms - Medicover Hospitals, Foveal Hypoplasia 1 | Hereditary Ocular Diseases, Isolated foveal hypoplasia: clinical presentation and imaging .
A 16-year-old teenager presented to the Department of Ophthalmology at the Gazi University Hospital, complaining of mild to moderate visual impairment in both eyes since early childhood. The patient was born on the 39th gestational week, with normal birth weight. His parents were not consanguineous, and he had two healthy siblings. His mother was not using any medication during her pregnancy, and there was no family history of ocular or systemic disease. The patient’s medical history was unremarkable. At presentation, his best-corrected visual acuity (VA) was 20/30 in both eyes (refractive error was −0.75 diopters in the right eye and −0.50 diopters in the left eye). His extraocular movements were full, and he was orthophoric at distance and near. There was no nystagmus and no iris transillumination defects suggestive of ocular albinism. The iris and chamber angle were normal, with no signs suggestive of aniridia (). Titmus testing showed impaired stereopsis. Dilated fundus examination revealed ill-defined maculofoveal areas, with absence of foveal reflexes bilaterally. The retinal vessels and capillaries were running abnormally close to both presumed macular areas, and both superior branch arterioles were crossing the horizontal meridian (). The vitreous, optic nerve, and retinal periphery were within normal limits in both eyes. Spectral-domain optical coherence tomography (Heidelberg Engineering, Heidelberg, Germany) images showed grade 4 foveal hypoplasia, which is characterized by the absence of foveal depression, widespread thickening of the retina, and extension of all neurosensory retinal layers in the fovea.4 Distinctive OCT findings of foveal hypoplasia were demonstrated in . Fundus autofluorescence imaging did not show the typical foveal darkening caused by light absorption by macular pigment (). The FAZ was absent in the fluorescein angiogram (). Color vision (Ishihara color plates) and full-field electroretinogram were normal in both eyes. Genetic testing was suggested but not obtained.Anterior segment examination showed a normal iris without transillumination defects and normal angle structures (A, right eye; B, left eye).Fundus examination showed absent foveal reflexes. The retinal vessels and capillaries, running abnormally close to both presumed macular areas, and the superior branch arterioles crossing the horizontal meridian (A, right eye; B, left eye).Spectral-domain OCT showing foveal hypoplasia characterized by the absence of extrusion of plexiform layers, absence of foveal pit, absence of outer segment lengthening, and absence of outer nuclear layer widening (horizontal scans of the [A] right eye and the [B] left eye).Fundus autofluoresence showing the absence of foveal reflexes (A, right eye; B, left eye).Fluorescein angiography demonstrating the absence of the foveal avascular zone (FAZ) (A, right eye; B, left eye).DISCUSSION, Foveal hypoplasia is an ocular abnormality in which the foveal pit either fails to develop or does not completely develop. It is associated with poor visual acuity and nystagmus. [1] It may present in isolation or be associated with other conditions such as albinism, coloboma, optic nerve hypoplasia, retinopathy of prematurity, and aniridia., Foveal hypoplasia may be found in patients with aniridia, albinism, and nystagmus but rarely appears in isolation. We report on a 16-year-old teenager with isolated FH, who presented to our clinic with bilateral mild to moderate visual impairment since early childhood..
Foveal hypoplasia is the absence of a foveal depression and the presence of the ganglion cell layer in the foveola. A spectrum of clinical characteristics, including normal or variably decreased visual acuity, has been described in patients with blunted foveal contours., Pathogenic variants in these genes often cause disruption to the foveal developmental process, resulting in foveal hypoplasia (FH), which describes the underdevelopment of the fovea. 1 Figure 1 Foveal pit formation and movement of retinal cells during formation of the area of high acuity., Foveal hypoplasia can cause symptoms like reduced central vision, poor visual acuity, nystagmus (involuntary eye movements), and sensitivity to light. Patients may also experience difficulties with depth perception and color vision. Regular eye exams are crucial to monitor the condition and manage any associated vision problems effectively., Diseases of the eye and retina often affect the function of this area and can lead to serious loss of vision. In some conditions such as this one, there is a congenital lack of normal development. The foveal portion of the retina does not develop normally in this disorder., Isolated foveal hypoplasia should be considered in the differential diagnosis of early-onset bilateral visual impairment, especially when the foveal reflexes seem absent., .