Investigative Ophthalmology & Visual Science Cover Image for Volume 65, Issue 7
June 2024
Volume 65, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2024
Carbonic anhydrase XIV may be downregulated in the retina and retinal pigment epithelium of Norrie disease protein knockout mice
Author Affiliations & Notes
  • Edward Esposito
    The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
  • Kang V Li
    Johns Hopkins Medicine Wilmer Eye Institute, Baltimore, Maryland, United States
  • Ying Liu
    Johns Hopkins Medicine Wilmer Eye Institute, Baltimore, Maryland, United States
  • Brian Lei
    Johns Hopkins University, Baltimore, Maryland, United States
  • Bani Aguirre
    Johns Hopkins Medicine Wilmer Eye Institute, Baltimore, Maryland, United States
  • Mandeep Singh
    Johns Hopkins Medicine Wilmer Eye Institute, Baltimore, Maryland, United States
    Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
  • Footnotes
    Commercial Relationships   Edward Esposito None; Kang Li None; Ying Liu Held by Johns Hopkins, Code P (Patent); Brian Lei None; Bani Aguirre None; Mandeep Singh OPUS genetics, Code C (Consultant/Contractor), Janssen/J&J, Code C (Consultant/Contractor), Agnos, Code O (Owner), Held by Johns Hopkins, Code P (Patent)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2024, Vol.65, 1699. doi:
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    • Get Citation

      Edward Esposito, Kang V Li, Ying Liu, Brian Lei, Bani Aguirre, Mandeep Singh; Carbonic anhydrase XIV may be downregulated in the retina and retinal pigment epithelium of Norrie disease protein knockout mice. Invest. Ophthalmol. Vis. Sci. 2024;65(7):1699.

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

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Abstract

Purpose : Cystoid edema (CE) is associated with blood-retina-barrier (BRB) breakdown and an abnormal distribution and activity of carbonic anhydrase (CA) on retinal pigment epithelium (RPE) cells. Treatment with carbonic anhydrase inhibitors (CAI) is often used, especially for CE in the context of retinitis pigmentosa. Recognizing the generally low efficacy of CAI treatment, our goal is to study new CE medicines in a mouse model. We hypothesized that the transgenic Norrie disease protein (NDP) knockout (KO) mouse, which displays CE, will have increased apical RPE (aRPE) CAXIV compared to wild type (WT). We expect this compensatory expression change to mimic the effect of CAXIV inhibition by CAIs on the basolateral RPE.

Methods : Retinal cryosections (18um) of 2.5-months-old KO mice were stained with anti-CAXIV (Invitrogen) antibody and compared to age-matched WT littermates. A Zeiss LSM710 confocal microscope was used for image acquisition with identical settings per sample. ImageJ was used to quantify mean fluorescence signal within regions of interest (ROI) outlining aRPE or neurosensory retina (NR). We included 2 WT mice and 3 KO mice with 13 and 16 retinal sections respectively. An unpaired t-test was used to compare WT and KO groups for NR and aRPE fluorescence.

Results : The WT aRPE showed increased mean fluorescence intensity compared to the KO aRPE (9.540 vs 7.885, p=0.3522). The WT NR had increased mean fluorescence intensity compared to the KO retina (17.48 vs 14.13, p= 0.0902).

Conclusions : These preliminary findings suggest decreased CAXIV expression in the aRPE and NR in a murine model of a disease with CE resulting from inner BRB breakdown. The results do not support our hypothesis and instead show a trend that suggests CAXIV downregulation in the NDP KO mouse retina and aRPE. Further quantification and analysis of this difference can help elucidate the mechanism by which CAIs decrease CE in diseases of inner BRB breakdown.

This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.

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