A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.
OBJECTIVE
To describe a patient with retinitis punctata albescens (RPA) associated with compound heterozygosity for two novel mutations in the RLBP1 encoding cellular retinaldehyde-binding protein (CRALBP).


METHODS
Observational case report.


METHODS
The proband underwent a complete ophthalmic examination and leukocyte genomic DNA samples were obtained from him and his parents. The RLBP1 exons were analyzed by direct sequencing of PCR-amplified fragments.


RESULTS
The patient had a clinical phenotype suggestive of slowly progressive RPA, characterized by numerous yellow-white dots in the fundus. The RLBP1 sequence analysis revealed a novel compound heterozygotic mutation of Gly145Asp and Ile200Thr transmitted from the mother and father, respectively. Analysis of 100 control chromosomes showed no individuals with these sequence alterations.


CONCLUSIONS
Only eight RLBP1 mutations have been reported to date, and here we describe two novel mutations. These additional mutations will aid ongoing functional studies and add to our understanding of the molecular pathology pertaining to RLBP1-associated retinopathies.
Demirci
F Yesim K
FY
Department of Ophthalmology, School of Medicine, University of Pittsburgh, 203 Lothrop Street, Pittsburgh, PA 15213, USA. demirciyk@upmc.edu
Rigatti
Brian W
BW
Mah
Tammy S
TS
Gorin
Michael B
MB
D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D018740:Genetic Heterogeneity; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012172:Retinaldehyde / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
C020932:11-cis-retinal-binding protein; D002352:Carrier Proteins; D012172:Retinaldehyde