研究目的
To report a new case of SCAPER-associated retinitis pigmentosa caused by a homozygous canonical splice variant and to expand the currently-known phenotypic presentation of SCAPER-associated retinopathy to include nonsyndromic RP.
研究成果
This study presents the first reported case of pathogenic biallelic variants in the gene SCAPER as manifesting with RP without syndromic findings, suggesting that SCAPER-associated retinitis pigmentosa can also present without systemic manifestations.
研究不足
The study reports on a single case, which limits the generalizability of the findings. The absence of extra-ocular manifestations in the patient could be due to genetic modifiers or other factors not accounted for in the study.
1：Experimental Design and Method Selection:
The study involved clinical evaluation and genetic testing of a patient with retinitis pigmentosa.
2：Sample Selection and Data Sources:
The patient and both parents underwent whole-exome sequencing.
3：List of Experimental Equipment and Materials:
Spectral-domain optical coherence tomography (SD-OCT), short-wavelength fundus autofluorescence (FAF, 488 nm), and full-field electroretinography (ff-ERG) were used.
4：Experimental Procedures and Operational Workflow:
Ophthalmic evaluation included measurement of best corrected visual acuity (BCVA), fundus examination and photography after pupillary dilation, SD-OCT, and FAF. ff-ERG was performed using DTL recording electrodes and Ganzfeld stimulation.
5：Data Analysis Methods:
Sequence reads obtained from WES were analyzed for the presence of pathogenic mutations by alignment to the human genome reference sequence using NextGENe software and an analytical pipeline at the Laboratory of Personalized Genomic Medicine at Columbia University.
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SureSelectXT Human All Exon V5+UTRs
V5+UTRs
Agilent Technologies
Capture for whole exome sequencing
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HiSeq2500
2500
Illumina
Sequencing technology
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NextGENe
Softgenetics
Software for sequence analysis
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SD-OCT
Diagnostic imaging
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FAF
488 nm
Fundus autofluorescence imaging
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ff-ERG
Electroretinography
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DTL recording electrodes
Recording electrodes for ff-ERG
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Ganzfeld stimulation
Stimulation for ff-ERG
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