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| foveal_hypoplasia [2023/09/26 16:14] – created Scott Larson | foveal_hypoplasia [2026/02/02 19:35] (current) – [Systemic Associations] Scott Larson | ||
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| * associated with poor vision and nystagmus | * associated with poor vision and nystagmus | ||
| - | ====== Ocular Associations | + | ==== Ocular Associations ==== |
| - | * Aniridia | + | * Aniridia |
| * Achromatopsia | * Achromatopsia | ||
| * Congenital retinal macrovessel | * Congenital retinal macrovessel | ||
| Line 13: | Line 13: | ||
| * Retinopathy of Prematurity | * Retinopathy of Prematurity | ||
| - | ====== Isolated Foveal Hypoplasia | + | ==== Isolated Foveal Hypoplasia ==== |
| * Autosomal Dominant from PAX 6 gene variants | * Autosomal Dominant from PAX 6 gene variants | ||
| * Autosomal Recessive from SLC38A8 gene variants | * Autosomal Recessive from SLC38A8 gene variants | ||
| Line 21: | Line 21: | ||
| * also associated with familial infantile nystagmus | * also associated with familial infantile nystagmus | ||
| - | ====== Systemic Associations | + | ==== Systemic Associations ==== |
| * [[albinism|Albinism]] | * [[albinism|Albinism]] | ||
| * [[fevr|Familial Exudative Vitreoretinopathy]] | * [[fevr|Familial Exudative Vitreoretinopathy]] | ||
| * [[incontientia_pigmenti|Incontientia pigmenti]] | * [[incontientia_pigmenti|Incontientia pigmenti]] | ||
| * Prematurity | * Prematurity | ||
| - | * Stickler Syndrome | + | * [[stickler_syndrome|Stickler Syndrome]] |
| + | |||
| + | ==== Diagnostic Procedures ==== | ||
| + | * Visual acuity | ||
| + | * VA is variable but can range from 20/40 to 20/200 | ||
| + | * Oculomotor | ||
| + | * Nystagmus and strabismus | ||
| + | * Ophthalmoscopy | ||
| + | * absence of foveal reflex and foveal avascular zone and typical macular pigment | ||
| + | * [[optical_coherence_tomography|OCT]] | ||
| + | * Absence of foveal pit, persistent inner retinal layers through fovea | ||
| + | * Example of an OCT report of a child with foveal hypoplasia | ||
| + | {{:: | ||
| + | |||
| + | * OCT-A | ||
| + | * absence of superficial capillary plexus and variable decrease in deep capillary plexus in the fovea | ||
| + | |||
| + | ==== References ==== | ||
| + | * [[https:// | ||
| + | * [[https:// | ||