June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Swept-Source Optical Coherence Tomography Detection of Bruch’s Membrane and Choriocapillaris Abnormalities in Sorsby Macular Dystrophy
Author Affiliations & Notes
  • Prashanth G Iyer
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Hao Zhou
    University of Washington, Seattle, Washington, United States
  • Qinqin Zhang
    University of Washington, Seattle, Washington, United States
  • Zhongdi Chu
    University of Washington, Seattle, Washington, United States
  • Mengxi Shen
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Yingying Shi
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Jeremy Liu
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Omer Trivizki
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Byron L Lam
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Ruikang K Wang
    University of Washington, Seattle, Washington, United States
  • Giovanni Gregori
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Philip J Rosenfeld
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Footnotes
    Commercial Relationships   Prashanth Iyer None; Hao Zhou None; Qinqin Zhang None; Zhongdi Chu None; Mengxi Shen None; Yingying Shi None; Jeremy Liu None; Omer Trivizki None; Byron Lam Stoke, Code C (Consultant/Contractor), AGTC, Code F (Financial Support), Biogen, Code F (Financial Support), ProQR, Code F (Financial Support), Spark, Code F (Financial Support), Editas, Code F (Financial Support), Janssen, Code F (Financial Support); Ruikang Wang cyberdontics, Code C (Consultant/Contractor), Carl Zeiss Meditec, Code C (Consultant/Contractor), Colgate Palmolive Company, Code F (Financial Support); Giovanni Gregori Carl Zeiss Meditec, Code F (Financial Support), Carl Zeiss Meditec, Code P (Patent); Philip Rosenfeld Carl Zeiss Meditec, Code C (Consultant/Contractor), Carl Zeiss Meditec, Code F (Financial Support)
  • Footnotes
    Support  Carl Zeiss Meditec, Inc. (Dublin, CA), Salah Foundation (Ft. Lauderdale, FL), National Eye Institute Center Core Grant (P30EY014801), Research to Prevent Blindness (unrestricted Grant) to the Department of Ophthalmology, University of Miami Miller School of Medicine
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 2912 – F0065. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Prashanth G Iyer, Hao Zhou, Qinqin Zhang, Zhongdi Chu, Mengxi Shen, Yingying Shi, Jeremy Liu, Omer Trivizki, Byron L Lam, Ruikang K Wang, Giovanni Gregori, Philip J Rosenfeld; Swept-Source Optical Coherence Tomography Detection of Bruch’s Membrane and Choriocapillaris Abnormalities in Sorsby Macular Dystrophy. Invest. Ophthalmol. Vis. Sci. 2022;63(7):2912 – F0065.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : Swept-source optical coherence tomography angiography (SS-OCTA) images were used to analyze Bruch’s membrane (BM) and choriocapillaris (CC) abnormalities in undiagnosed relatives from a family with Sorsby macular dystrophy (SMD).

Methods : In a family with SMD (TIMP3 Tyr191Cys), SS-OCTA imaging was performed using the 6X6mm scan pattern and previously validated algorithms to detect abnormalities in BM and the CC, as well as the presence of reticular pseudodrusen (RPD) and macular neovascularization (MNV). Genetic analyses were performed for TIMP3 mutations.

Results : Of eight family members, two were previously diagnosed with SMD and six were asymptomatic (Figure 1). SS-OCTA imaging of the 33-year-old proband revealed type 1 MNV in the left eye and bilateral RPD, thickening of BM, CC thinning, and increases in CC flow deficits (FDs) (Figure 2). A TIMP3 mutation was confirmed. His niece, despite having no clinical evidence of SMD, showed BM thickening and CC thinning on SS-OCTA. A TIMP3 mutation was confirmed. The proband’s younger nephew and niece also carried the TIMP3 mutation without clinical evidence of SMD. Two additional members had normal exams, unremarkable SS-OCTA findings, and no TIMP3 mutation.

Conclusions : SS-OCTA imaging can detect BM and CC abnormalities in vivo in subjects unaware of their TIMP3 status in a family with SMD.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

 

Figure 1. Pedigree of Family with Sorsby Macular Dystrophy.

Figure 1. Pedigree of Family with Sorsby Macular Dystrophy.

 

Proband, Patient III-4, 33-year-old man.
(A) En face structural OCT with the slab above the RPE of the right eye reveals reticular pseudodrusen. (B) Thickness map of Bruch’s membrane (BM) reveals temporal thickening of the right eye. (C) OCT angiography of the choriocapillaris (CC, grey color) demonstrates temporal increase in flow deficit (green color), corresponding to the increased BM thickness. (D) The CC thickness map demonstrates thinning temporally in the right eye corresponding to the thickening of BM. (E) For the left eye, en face structural OCT with the slab above the RPE reveals RPD. (F) The BM thickness map also reveals temporal thickening of BM in the left eye. (G) OCT angiography of the CC demonstrates temporal increase in CC flow deficit corresponding to the increased BM thickness. (H) The CC thickness map demonstrates thinning temporally corresponding to the thickening of BM for the left eye.

Proband, Patient III-4, 33-year-old man.
(A) En face structural OCT with the slab above the RPE of the right eye reveals reticular pseudodrusen. (B) Thickness map of Bruch’s membrane (BM) reveals temporal thickening of the right eye. (C) OCT angiography of the choriocapillaris (CC, grey color) demonstrates temporal increase in flow deficit (green color), corresponding to the increased BM thickness. (D) The CC thickness map demonstrates thinning temporally in the right eye corresponding to the thickening of BM. (E) For the left eye, en face structural OCT with the slab above the RPE reveals RPD. (F) The BM thickness map also reveals temporal thickening of BM in the left eye. (G) OCT angiography of the CC demonstrates temporal increase in CC flow deficit corresponding to the increased BM thickness. (H) The CC thickness map demonstrates thinning temporally corresponding to the thickening of BM for the left eye.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×