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fundus albipunctatus
Disease Summary
Associated Targets (5)
Tbio
5
Mondo Description Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
Uniprot Description A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive.
Disease Ontology Description A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
COHD:373472
DOID:11105
ICD9:362.74
ICD9:362.76
MESH:C562733
OMIM:136880
Orphanet:227796
SCTID:68222009
MONDO:0007639
High level summary of knowledge for a disease, including descriptions and datasource references.