Ultra-widefield fundus autofluorescence imaging in patients with autosomal recessive retinitis pigmentosa reveals a genotype–phenotype correlation

• Published in: Graefe's archive for clinical and experimental ophthalmology 2022-11, Vol.260 (11), p.3471-3478
• Main Authors: Patal, Rani, Banin, Eyal, Batash, Tomer, Sharon, Dror, Levy, Jaime
• Format: Article
• Language: English
• Subjects: Genotypes; Genotyping; Medicine; Medicine & Public Health; Mutation; Ophthalmology; Phenotypes; Retinal Disorders; Retinitis; Retinitis pigmentosa
• ISSN: 0721-832X; 1435-702X
• DOI: 10.1007/s00417-022-05683-w

Purpose To analyze the genotype–phenotype correlation in patients with retinitis pigmentosa (RP) caused by mutations in the FAM161A , DHDDS , or MAK genes using ultra-widefield fundus autofluorescence (UWF-FAF) imaging. Methods Retrospective case series of patients with autosomal recessive RP (ARRP) with confirmed causative genetic mutations and available UWF-FAF imaging data. The UWF-FAF data were graded in a blinded fashion using the following criteria: the pattern of macular abnormalities on FAF, the presence or absence of horizontal linear hyperautofluorescence, the extent of decreased autofluorescence (DAF), the shape of DAF, and the presence of hyperautofluorescence at the optic disk. Results A total of 43 patients (mean age of 47 ± 16 years, ranging from 17 to 79 years) with ARRP (86 eyes) were included in our analysis. Genotyping data revealed biallelic mutations in the FAM161A , DHDDS , and MAK genes in 20, 12, and 11 patients, respectively. We found significant differences between the three groups with respect to the pattern of macular abnormalities on FAF ( p  = 0.001), DAF configuration ( p  = 0.007), and extent of DAF ( p  = 0.037). The largest difference between groups was found for macular abnormalities on FAF, with DHDDS patients differing significantly from the MAK and FAM161A groups ( p  = 0.001). Specifically, DHDDS patients had a more abnormal macular FAF pattern and more widespread decrease in peripheral autofluorescence. No other parameters differed significantly between the three groups. Conclusions Patients with ARRP can present with specific UWF-FAF patterns based on the underlying causative gene. Future studies are warranted in order to expand this analysis to include additional genes, mutations, and patients as well as assessment of disease progression by following patients over longer periods of time.