Multimodal image alignment aids in the evaluation and monitoring of sector retinitis pigmentosa

ABSTRACT

Purpose

To present a semi-automated method of image alignment to aid in monitoring the progression of inherited retinal degenerations (IRDs).

Results

A 22-year-old woman presented with nyctalopia and a family history of retinitis pigmentosa (RP), but with no prior genetic testing. Fundus examination showed a sectoral retinal degeneration involving the inferior and nasal retina with rare, pigmented deposits. Goldmann kinetic perimetry demonstrated corresponding superotemporal visual field defects. The best-corrected visual acuity was 20/20 in both eyes. Multimodal imaging delineated geographically restricted peripheral retinal degeneration extending to the inferior edge of the macula. Central visual function remained intact with normal multifocal electroretinography findings. Optical coherence tomography (OCT) through the leading edge of the retinal degeneration confirmed loss of the photoreceptor layer and associated retinal pigment epithelium. In the region of retinal degeneration, loss of vascular flow density was noted on optical coherence tomography angiography (OCTA). Genetic testing identified a pathologic sequence variant in RHO (c.68C>A, p.Pro23His), confirming autosomal dominant sector retinitis pigmentosa (SRP). Image alignment allowed for precise measurement of the progression of SRP over a period of 18 months.

Conclusion

SRP is a rare subtype of RP characterized by focal, typically inferior and nasal, retinal degeneration of the peripheral retina. Although the onset and extent of peripheral retinal degeneration varies, compared with RP, SRP typically progresses more slowly to involve the macula. In this report, we highlight the utility of image registration and alignment to aid in monitoring disease progression in IRDs by means of multimodal imaging.

KEYWORDS:

• Sector retinitis pigmentosa
• inherited retinal dystrophy
• genetic testing
• multimodal imaging
• optical coherence tomography angiography
• electroretinogram

Acknowledgments

The authors thank Dr. Shiyoung Roh, Dr. Michael Cooper, Dr. Noreen Shaikh, Dr. Joseph Anaya, Dr. Alexander Huther, Tim Tivan, as well as Carol Spencer, Lahey Hospital Librarian, for research support. David J. Ramsey is the Harry N. Lee Family Chair in Innovation at the Lahey Hospital & Medical Center, Beth Israel Lahey Health.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Availability of data and materials

All data generated or analyzed during this study are included in this manuscript.

Ethics approval and consent to participate

Written informed consent for case report publication was received from the patient.

Institutional review board statement

Our study adheres to the tenets of the Declaration of Helsinki and was deemed exempt by the Institutional Review Board of the Lahey Hospital & Medical Center by virtue of being a single case report.

Supplementary material

Supplemental data for this article can be accessed online at https://doi.org/10.1080/13816810.2022.2092755.

Additional information

Funding

The author(s) reported that there is no funding associated with the work featured in this article.