O Donnell Pappas syndrome

Common Name(s)

O Donnell Pappas syndrome, Foveal hypoplasia and presenile cataract syndrome

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}), albinism (see {203100}), or achromatopsia (see {216900}). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by {6:Perez et al., 2014}). Genetic Heterogeneity of Foveal Hypoplasia Foveal hypoplasia-2 (FVH2; {609218}) is caused by mutation in the SLC38A8 gene ({615585}) on chromosome 16q23.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "O Donnell Pappas syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "O Donnell Pappas syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "O Donnell Pappas syndrome" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "O Donnell Pappas syndrome" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.