fundus albipunctatus

fun·dus al·bi·punc·ta·'tus

[MIM*136880] a nonprogressive disorder of the retinal pigment epithelium characterized by numerous discrete, white dots; night blindness is a feature; autosomal dominant and recessive forms have been suggested.

fundus albipunctatus

A form of fleck retina disease (OMIM:136880) characterised by discrete, uniform white dots over the entire ocular fundus, with greatest density in the midperiphery and no macular involvement. Is generally accompanied by night blindness; autosomal recessive and autosomal dominant forms have been described.
Molecular pathology
Fundus albipunctatus has been linked to a mutations of RDH5 on chromosome 12q13.2 and RLBP1 on chromosome 15q26.1.

fundus albipunctatus

An autosomal recessive form of night blindness in which the retina is flecked or pigmented, and resynthesis of rhodopsin is delayed.

单词	fundus albipunctatus
释义	fundus albipunctatus fun·dus al·bi·punc·ta·'tus [MIM*136880] a nonprogressive disorder of the retinal pigment epithelium characterized by numerous discrete, white dots; night blindness is a feature; autosomal dominant and recessive forms have been suggested. fundus albipunctatus A form of fleck retina disease (OMIM:136880) characterised by discrete, uniform white dots over the entire ocular fundus, with greatest density in the midperiphery and no macular involvement. Is generally accompanied by night blindness; autosomal recessive and autosomal dominant forms have been described. Molecular pathology Fundus albipunctatus has been linked to a mutations of RDH5 on chromosome 12q13.2 and RLBP1 on chromosome 15q26.1. fundus albipunctatus An autosomal recessive form of night blindness in which the retina is flecked or pigmented, and resynthesis of rhodopsin is delayed.
随便看	chicago cultural center chicago daily tribune chicago dental society chicago department of public health chicago disease chicago district evangelistic association chicago district golf association chicago dwellings association chicago eight chicago electrical estimator's association chicago energy conservation code chicago federal home loan bank chicago federation of musicians chicago fed midwest manufacturing index chicago fed national activity index chicago festival of israeli cinema chicago field museum chicago fields museum chicago film critics association chicago film producers alliance chicago financial group chicago fire chicago fire department chicago fire fighters union chicago fireman’s annuity & benefit fund