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AGUSTIN LORIA, Walter I. Rivera, Alice Behrens, Victor H. Gonzalez; Genetic and Ocular Imaging Analysis in Patients with Retinitis Pigmentosa: Case Series. Invest. Ophthalmol. Vis. Sci. 2020;61(7):3049.
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Purpose:Retinitis Pigmentosa (RP) is one of the leading causes of inherited blindness in theworld. It is caused by a wide diversity of gene mutations. With the new generation of geneticmapping (NGGM) there is more information available to help understand and try to find newpproaches to treat this disease. NGGM is an easy, fastand precise way for determining the site of the mutation. This case series study reports thegenetic abnormalities found in patients with RP in South Texas.
This is a Retrospective, observational, case series, of 21 patients with ClinicalRetinitis Pigmentosa, who underwent comprehensive ophthalmologic examination. The retinawas evaluated with Spectral Domain Optical Coherence Tomography (SD-OCT) measuringCRT and Foveal IS/OS Length . A blood sample was taken for sequence analysis anddeletion/duplication testing for 248 genes, to identify disease and theirvariants
Mean VA: 1.21Log Mar (SD=0.9 LogMar) Mean IOP: 14.9 mmHg (SD=4.3mmHg), Mean CRT:232 Microns (SD=102 Microns), Mean IS/OS Length: 1526 Microns (SD=2163 Micron. Pathogenic geneswere detected in 14 of 21 patients , the most common pathogenic variant were: USH2A: (50% ) followed by ABCA4 : (14.2%), BBS5(7.14%), CDH3(7.14%), CRKL(7.14%), BBS10(7.14%) and PDE6B(7.14%). Groups were divided according to the laboratory gene variant classification. Group A: pathogenic variant and Group B: uncertain significance variant . The mean VA LogMar was 1.47 Log Mar and 1.18 Log Mar for group A and B respectively. The mean IOP was 13mmHg and 15mmHg for groups A and B respectively. The CRT was 226.81microns and 236.45 microns for group A and B respectively. Foveal IS/OS length in Group A vs B : 683.86 microns vs 1577.63 microns. Multimodal imaging findings were evaluated in each group of patients.
Even though not all the patients had pathogenic variants all of them demonstrated typical phenotypic and clinical findings associated with retinitis pigmentosa. We found that patients with pathogenic variants had lower VA that correlates with the length of the IS/OS junction.
This is a 2020 ARVO Annual Meeting abstract.
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