Multimodal imaging of RCBTB1-associated retinal dystrophy.

Area of Science:

• Genetics
• Ophthalmology
• Molecular Biology

Background:

• Variants in the RCBTB1 gene are linked to inherited retinal diseases.
• Limited information exists regarding RCBTB1-associated retinopathy, its diagnosis, and progression.

Purpose of the Study:

• To report a novel splice variant in the RCBTB1 gene.
• To describe the clinical features and progression of retinopathy associated with this variant.

Main Methods:

• Clinical assessment using multimodal imaging (OCT, fundus autofluorescence).
• Evaluation of atrophy progression over time.
• Next-generation sequencing for genetic testing and in silico analysis for pathogenicity.

Main Results:

• A 54-year-old woman presented with reduced visual acuity and retinal abnormalities.
• A novel splice variant (c.1325-2A>G) in RCBTB1 intron 11 was identified.
• Fundus examination revealed macular and peripapillary atrophy with foveal sparing and mid-peripheral granular alterations.

Conclusions:

• RCBTB1-associated retinal dystrophy shares phenotypic similarities with mitochondrial retinopathy.
• Multimodal retinal imaging is crucial for monitoring disease progression and understanding this pathology.