Abstract
Purpose :
The aim of this study is to describe the phenotype of goldmann-favre syndromein a chineseautosomal dominant retinitis pigmentosafamily with the p.G56Rmutationin NR2E3 and to analyze and compare the different phenotypes caused bymutitions in NR2E3 in humans.
Methods :
All persons in the pedigree was subjected to next-generation whole exome sequencing and Sanger sequencing.Molecular diagnosis identified the three patients with a p.G56R mutation.Restriction fragment length polymorphism assay(RFLP) in the petients and 100 unrelated normal controls of Chinese origin was performed.Ophthalmic clinical examination included best corrected visual acuity (BCVA),Color fundus photography, Visual field(VF),spectral domain-optical coherence tomography (SD-OCT),Fundus autofluorescence(FAF),Fundus fluorescein angiography (FFA), full-field electroretinography (ERG) and optical coherence tomography-angiography (OCTA).
Results :
All subjects in the pedigree underwent next-generation whole exome sequencing,a heterozygousmissensemutationc.G166A(p.G56R) in the NR2E3 gene was recognized in the proband ,her father and her uncle. Variant was further confirmed by Sanger sequencing and in 100 unrelated normal controls of Chinese origin.The visual field showed a ringlike visual field loss on both eyes.The FAF of the proband showed low autofluorescent ringon both eyes located around the optic diskand along the vascular arcades.The FFA of the proband showed double concentrichyperfluorescence ring,an outer ring located around the optic diskand along the vascular arcades,an inner ring located in the perimacularregion.The SD-OCT and OCTA image of the probandshowedcystic macular lesions OU in the retinal neuroepithelial layer.The ERG results show the dark-adapted 0.01and DA 3.0 responses are almost bilaterally undetectable. The light-adapted 3.0 and the LA 3.0 flicker electroretinography are both very lower amplitude than the normal control.
Conclusions :
Three persons with the p.G56Rmutationin NR2E3in a Chinese family were diagnosed with ADRP by the medical historyandnext-generation whole exome sequencinginthe four affiliated hospitals of China medical university,but the phenotypes of our proband at present are similar to the characteristic of GFS.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.