Abstract: PO1653
Assessing Alport Syndrome and Thin Basement Membrane Nephropathy (TBMN) by Optical Coherence Tomography (OCT)
Session Information
- Genetic Diseases of the Kidneys: Non-Cystic - 2
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1002 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Al-Rabadi, Laith, University of Utah Health, Salt Lake City, Utah, United States
- Sauer, Lydia, University of Utah Health, Salt Lake City, Utah, United States
- Vitale, Alex, University of Utah Health, Salt Lake City, Utah, United States
- Lin, Edwin, University of Utah Health, Salt Lake City, Utah, United States
- Aldulaimi, Ragheed, University of Utah Health, Salt Lake City, Utah, United States
- Thomas, Alun, University of Utah Health, Salt Lake City, Utah, United States
- Bernstein, Paul, University of Utah Health, Salt Lake City, Utah, United States
- Gregory, Martin C., University of Utah Health, Salt Lake City, Utah, United States
Background
Using OCT to identify temporal macular thinning has diagnostic importance in patients with X-linked Alport syndrome (XLAS) but little prior research has been done to evaluate temporal macular thinning in COL4A3 and COL4A4 compound heterozygotes (ARAS) and simple heterozygotes. (TBMN)
Individuals with heterozygous COL4A3 or COL4A4 mutations usually have TBMN, which is considered the carrier state of autosomal recessive Alport syndrome (ARAS). The aim of this study is to assess ophthalmologic findings in simple and compound heterozygotes and to compare them to normal control and XLAS.
Methods
Genotyping was done to detect COL4A3 and Col4A4 mutations and to classify family members as ARAS, TBMN or normal.
Temporal thinning index (TTI) was calculated from OCT measurements of the more severely affected eye by comparing the ratio of the retinal thickness of the temporal (T) to the nasal (N) subfields with a published normative database. ( Figure, y axis)
Student’s T-test and ANOVA were used to identify binary and multiple groups’ differences. In addition, multivariate linear regression was also performed controlling for age, gender and interaction terms between different variables.
Results
We report results from 12 normal controls, 16 COL4A3 or COL4A4 simple heterozygotes, 7 compound heterozygotes and 18 hemizygous males with XLAS. Mean TTI was 5.75, 7.4, 9.45 and 9.37 in these four groups, respectively. TTI in each group (simple heterozygotes, compound heterozygous, and XLAS) was significantly greater than normal controls (P < 0.01). TTI was not significantly different between simple and compound COL4A3/4 heterozygotes (P= 0.13). Age, gender, and GFR were not associated with significant differences in the regression analysis.
Conclusion
This is the largest study that systematically assessed ophthalmologic findings in XLAS, ARAS and TBMN. OCT may guide our evaluation of family members who are potential donors.
Funding
- Private Foundation Support