Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa

Key Points

• The aim is to identify mutations in the USH2A gene that cause non-syndromic retinitis pigmentosa.
• Genetic analysis of a Chinese family
• Identification of compound heterozygous mutations in USH2A
• Examination of the mutation spectrum associated with RP
• Identified compound heterozygous mutations in USH2A in the family
• Expanded the known mutation spectrum of USH2A
• Contributed to understanding the genetic basis of retinitis pigmentosa