【Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod Dystrophy and Myopia】
#论文# #眼科学# #近视# #视网膜退化# #基因#

X-linked cone-rod dystrophy (XLCRD) is a rare progressive retinal degeneration. Moderate or high myopia is often secondary to XLCRD phenotype both on patients and carrier. RPGR gene is responsible for XLCRD (OMIM #304020) and atrophic macular degeneration (OMIM #300834). This paper describes a male patient with clinical suspicion of CRD in whom clinical exome sequencing (CES) found a novel nonsense mutation in the exon ORF15 (c.1905 + 223C > T, p.Q710X) of RPGR gene.

DOI: 10.4236/crcm.2022.1110059 https://t.cn/A6oVIMAp

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