June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
Genetic and Ocular Imaging Analysis in Patients with Retinitis Pigmentosa: Case Series
Author Affiliations & Notes
  • AGUSTIN LORIA
    Research, Valley Retina Institute, Mcallen, Texas, United States
  • Walter I. Rivera
    Research, Valley Retina Institute, Mcallen, Texas, United States
  • Alice Behrens
    Research, Valley Retina Institute, Mcallen, Texas, United States
  • Victor H. Gonzalez
    Research, Valley Retina Institute, Mcallen, Texas, United States
  • Footnotes
    Commercial Relationships   AGUSTIN LORIA, None; Walter Rivera, None; Alice Behrens, None; Victor Gonzalez, Alimera: (F), Allegro Ophthalmics (F), Apellis Pharmaceuticals (F), Beaver-Visitec International, Inc (C), Boehringer Ingelheim: (F), Chengdu Kanghong Biotechnology Co., Ltd (F), DRCR Net (F), Genentech Code (F), Opthea Ltd (F), Topcon (C)
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 3049. doi:
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    • Get Citation

      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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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Purpose:Retinitis Pigmentosa (RP) is one of the leading causes of inherited blindness in the
world. It is caused by a wide diversity of gene mutations. With the new generation of genetic
mapping (NGGM) there is more information available to help understand and try to find new
pproaches to treat this disease. NGGM is an easy, fast
and precise way for determining the site of the mutation. This case series study reports the
genetic abnormalities found in patients with RP in South Texas.

Methods : This is a Retrospective, observational, case series, of 21 patients with Clinical
Retinitis Pigmentosa, who underwent comprehensive ophthalmologic examination. The retina
was evaluated with Spectral Domain Optical Coherence Tomography (SD-OCT) measuring
CRT and Foveal IS/OS Length . A blood sample was taken for sequence analysis and
deletion/duplication testing for 248 genes, to identify disease and their
variants

Results : 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 genes
were 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.

Conclusions : 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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