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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.
Mondo Term and Equivalent IDs
MONDO:0007639:  fundus albipunctatus
COHD:373472: 
ICD9:362.74: 
ICD9:362.76: 
MESH:C562733: 
Orphanet:227796: 
SCTID:68222009: