TY - JOUR
T1 - Diagnostic challenges in retinitis pigmentosa
T2 - Genotypic multiplicity and phenotypic variability
AU - Chang, Susie
AU - Vaccarella, Leah
AU - Olatunji, Sunday
AU - Cebulla, Colleen
AU - Christoforidis, John
PY - 2011
Y1 - 2011
N2 - Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known causative gene mutations, and the genotypic-phenotypic correlation of RP.
AB - Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known causative gene mutations, and the genotypic-phenotypic correlation of RP.
KW - Clinical manifestation
KW - Genetic testing
KW - Genotype-phenotype correlation
KW - Heterogeneity
KW - Phenotypic variation
KW - Retinitis pigmentosa
UR - http://www.scopus.com/inward/record.url?scp=79959954905&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79959954905&partnerID=8YFLogxK
U2 - 10.2174/138920211795860116
DO - 10.2174/138920211795860116
M3 - Article
C2 - 22131872
AN - SCOPUS:79959954905
SN - 1389-2029
VL - 12
SP - 267
EP - 275
JO - Current Genomics
JF - Current Genomics
IS - 4
ER -