Journal
OPHTHALMIC RESEARCH
Volume 65, Issue 1, Pages 104-110Publisher
KARGER
DOI: 10.1159/000520895
Keywords
Congenital stationary night blindness; RDH5; NYX; SAG; Consanguinity
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Funding
- Swiss National Science Foundation [176097]
- Di-ana Davis Spencer Clinical Research Fellowship Award from the Foundation Fighting Blindness
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This study identified new mutations associated with congenital stationary night blindness in four consanguineous families from the Southern Punjab region of Pakistan, and reported the presence of previously known mutations in the Pakistani population for the first time.
Introduction: Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities. Methods: We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals affected with CSNB. Exome sequencing was performed in probands of all four families; Sanger sequencing was performed in additional members to test co-segregation of the variants identified. Results: We identified two novel and likely pathogenic variants in two pedigrees, namely, NM_002905.4:c.668A>C (p.Gln223Pro) in RDH5 and NM_022567.2:c.908del (p.Gly303ValfsTer45) in NYX. In the two other families, the variants NM_002905.4:c.319G>C (p.Gly107Arg) in RDH5 and NM_000541.5:c.874C>T (p.Arg292Ter) in SAG were identified. These latter mutations have been reported previously, but not in the Pakistani population. Conclusions: Our findings expand the mutational spectrum of CSNB, in particular within the population of Southern Punjab.
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