Related Experiment Video
Updated: Aug 9, 2026
Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
Published on: November 2, 2018
Very Large Cystoid Macular Lesions Identified Using Outlier Analysis of Genetically Confirmed Inherited Retinal
Bani Antonio-Aguirre1, Carlthan Ling2, Mandeep S Singh1,3
1Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, Maryland, USA.
Background:
Cystoid macular lesions (CML) in inherited retinal diseases (IRDs) can contribute to vision impairment. Studying the morphologic range and outlier presentations of CML may inform clinical associations, mechanistic research, and trial design. Thus, we aim to describe the distribution of optical coherence tomography (OCT) parameters in IRD cases with CML and identify phenotype-genotype associations in very large cystoid macular lesions (VLCML).
Materials And Methods:
This cross-sectional study retrieved clinical information from electronic records from January 2020 to December 2021. VLCML cases were identified using the robust distance (Mahalanobis) of the correlation between central foveal thickness (CFT) and total macular volume (TMV) and a 99.9% probability ellipse. The distribution of OCT parameters was calculated by genotype and phenotype.
Results:
We included 173 eyes of 103 subjects. The median age was 55.9 (interquartile range [IQR], 37.9, 63.7) and 47.6% (49/103) were females. Patients had disease-causing mutations in 30 genes. The most common genes included USH2A (n = 18), RP1 (n = 12), and ABCA4 (n = 11). Robust distance analysis showed that the prevalence of VLCML was 1.94% (n = 2 patients, 4 eyes). VLCML was seen in cases of NR2E3 (119-2A>C) and BEST1 (1120_1121insG) mutations. The median CFT in cases without VLCML was 269 µm (IQR 209, 318.50) while the median for VLCML cases was 1,490 µm (IQR 1,445.50, 1,548.00) (P < .001).
Conclusions:
Subjects with different IRD genotypes may develop VLCMLs. Future studies could consider the range and outlier values of CML foveal thickness when determining inclusion criteria and biostatistical plans for observational and interventional studies.
