Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene

Documenta Ophthalmologica

Volumn 115, Issue 2, 2007, Pages 111-116

  Iannaccone, Alessandro ^a   Tedesco, Salvatore A ^a,d   Gallaher, Kevin T ^a   Yamamoto, Hiroyuki ^b,e   Charles, Steve ^a,c   Dryja, Thaddeus P ^b  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^c Charles Retina Institute   (United States)

^d UNIVERSITY OF PARMA   (Italy)

^e Nippon Steel Hirohata Hospital   (Japan)

Author keywords

Electroretinogram; Fundus albipunctatus; RDH5; Retinitis punctata albescens; Retinol dehydrogenase

Indexed keywords

INTERPHOTORECEPTOR RETINOID BINDING PROTEIN; RETINOL BINDING PROTEIN; RETINOL BINDING PROTEIN 3; RETINOL DEHYDROGENASE; UNCLASSIFIED DRUG;

A WAVE; ARTICLE; B WAVE; CASE REPORT; CLINICAL FEATURE; DARK ADAPTATION; DIFFERENTIAL DIAGNOSIS; ELECTRORETINOGRAPHY; ENZYME INHIBITION; EYE FUNDUS ALBIPUNCTATUS; FEMALE; HETEROZYGOSITY; HISPANIC; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; RETINA CONE; RETINA DISEASE; RETINITIS PUNCTATA ALBESCENS; SEQUENCE ANALYSIS; STIMULUS RESPONSE; VISUAL STIMULATION;

ALCOHOL OXIDOREDUCTASES; CHILD; DARK ADAPTATION; DIAGNOSIS, DIFFERENTIAL; ELECTRORETINOGRAPHY; FEMALE; FUNDUS OCULI; HETEROZYGOTE; HISPANIC AMERICANS; HUMANS; MUTATION, MISSENSE; NIGHT BLINDNESS; PHOTIC STIMULATION; PHOTORECEPTORS, VERTEBRATE; RETINITIS; TIME FACTORS;

EID: 34548667704     PISSN: 00124486     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10633-007-9054-0     Document Type: Article

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