What is foveal hypoplasia?
Foveal hypoplasia is a retinal disorder in which there is a lack of full development of the morphology of the fovea. The optical coherence tomography (OCT) and functional findings are presented in relation to the underlying genetic and developmental conditions.
What causes foveal hypoplasia?
Foveal hypoplasia is typically associated with PAX6 mutations,9 albinism10 and retinopathy of prematurity,11 whereas atypical forms of foveal hypoplasia have been associated with achromatopsia. Previous studies have also described foveal hypoplasia as being without an identifiable genetic cause.
How is foveal hypoplasia diagnosed?
Optical coherence tomography (OCT) is a noninvasive imaging modality that produces high-resolution, 2-dimensional images of ocular structures. We report the use of OCT to establish a diagnosis of foveal hypoplasia in a patient with decreased vision, in whom the diagnosis had been suspected clinically.
Is foveal hypoplasia progressive?
The disease is recurrent and progressive and there is usually asymmetry between the two eyes. Non-penetrance and considerable variation in expression have been reported. Acute episodes are characterized by photophobia, tearing, mucous discharge, and punctate keratitis.
How common is foveal hypoplasia?
Foveal hypoplasia as an isolated entity is a rare phenomenon, with only few cases reported to date. All reported cases of foveal hypoplasia are accompanied by decreased visual acuity and nystagmus.
What is bilateral foveal hypoplasia?
Purpose : Foveal hypoplasia is described as an absent or shallow pit, thickened inner retina, shortened outer segments and an increased retinal thickness. Bilateral foveal hypoplasia is often associated with other ocular comorbidities, including albinism, aniridia, microphthalmia and retinopathy of prematurity.
Is foveal hypoplasia a genetic disorder?
Foveal hypoplasia has been described to be associated with mutations in numerous genes causing a spectrum of ocular disorders.
What is ocular albinism?
Ocular albinism is a genetic disorder characterized by vision abnormalities in affected males. Vision deficits are present at birth and do not become more severe over time. Affected individuals have normal skin and hair pigmentation.
Can structural grading of foveal hypoplasia predict future vision in infantile nystagmus?
Conclusions: Handheld OCT can predict future VA in infantile nystagmus. Structural grading is a better predictor of future VA than quantitative segmentation and PL testing. Predicting future vision may avert parental anxiety and may optimize childhood development.
What is ocular albinism caused by?
Ocular albinism is inherited as an X-linked recessive genetic condition and caused by mutations in the G protein-coupled receptor 143 (GPR143) gene.
Can ocular albinism be cured?
Because albinism is a genetic disorder, it can’t be cured. Treatment focuses on getting proper eye care and monitoring skin for signs of abnormalities. Your care team may involve your primary care doctor and doctors specializing in eye care (ophthalmologist), skin care (dermatologist) and genetics.
Which is the best description of foveal hypoplasia?
▼ Description. Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia ( 106210 ), microphthalmia (see 251600 ),…
Can a person with foveal hypoplasia have corneal disease?
This database contains 8 conditions in which mutations in PAX6 seem to be responsible, including syndromal conditions such as Stromme and Gillespie syndromes in which there may be cognitive disabilities. True isolated foveal hypoplasia without lens or corneal disease does exist as well but this condition ( FVH2 ) is not well defined.
Can a foveal dysplasia be an ocular disorder?
With the widespread utilization of OCT measurements, we have learned that underdevelopment of the fovea can be a feature of numerous ocular disorders (more than 20 in this database). In most conditions, the foveal dysplasia is part of a disease complex as in foveal hypoplasia with anterior segment dysgenesis ( 609218 ).
When to have cataract surgery for foveal hypoplasia?
In most conditions, the foveal dysplasia is part of a disease complex as in foveal hypoplasia with anterior segment dysgenesis ( 609218 ). Cataract surgery is indicated when lens opacities become visually significant.