Retrospective study maps genetic landscape of leber congenital amaurosis

A recent retrospective study conducted at the inherited retinal disease (IRD) clinic at the University of Minnesota Health System sheds light on the clinical characteristics and genetic variants present in a cohort of Leber congenital amaurosis (LCA) patients.

The study, aimed at understanding the nuances of LCA within the Midwest region of the United States, analyzed data from 33 non-syndromic patients and one patient with Joubert syndrome.

The research, which examined medical history, clinical examinations, and genetic testing results, revealed significant findings. Utilizing ocular coherence tomography (OCT) and fundus autofluorescence (FAF), the study monitored disease presentation, noting advanced photoreceptor loss in 85.7% of the patients. Additionally, all patients who underwent FAF exhibited findings indicative of either a ring of macular hypo/hyper autofluorescence or peripheral hypo-autofluorescence.

Electroretinogram (ERG) testing, performed when clinically indicated, revealed abnormal findings in all patients, underlining the severity and consistency of the disease manifestation within the cohort.

One of the pivotal aspects of the study was the genetic testing offered to all evaluated patients. Through next-generation sequencing (NGS) and subsequent genetic counseling, a diagnostic genetic test result was identified in 74.2% of the patients via NGS single-gene testing or panel testing. This highlights the importance of genetic analysis in understanding the underlying causes of LCA.

Reference
Sather R 3rd, Ihinger J, Simmons M, et al. The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort. Int J Mol Sci. 2024;25(2):1253. doi: 10.3390/ijms25021253. PMID: 38279252; PMCID: PMC10816538.