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

  • Retinal Disorders
  • Published:
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Abstract

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.

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Data availability

All data is available by request.

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Funding

This work was supported by an Israel Science Foundation grant (#3485/19), by the Legacy Heritage Biomedical Science Partnership Program of the Israel Science Foundation (grant no. 1037/15), and by the Yedidut Research Grant (to E.B.). The funding organizations had no role in the design or conduct of this research.

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Authors and Affiliations

  1. Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel

    Rani Patal, Eyal Banin, Tomer Batash, Dror Sharon & Jaime Levy

Authors
  1. Rani Patal
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  2. Eyal Banin
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  3. Tomer Batash
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  4. Dror Sharon
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  5. Jaime Levy
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Contributions

Research design (Rani Patal, Jaime Levy), data acquisition (Rani Patal, Eyal Banin, Dror Sharon, Jaime Levy), data analysis and/or interpretation (Rani Patal, Tomer Batash, Jaime Levy), manuscript preparation (Rani Patal, Eyal Banin, Tomer Batash, Dror Sharon, Jaime Levy).

Corresponding author

Correspondence to Jaime Levy.

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The study was approved by our institutional ethics committee and conducted in adherence to the tenets of the Declaration of Helsinki. Informed consent was not required.

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Patal, R., Banin, E., Batash, T. et al. Ultra-widefield fundus autofluorescence imaging in patients with autosomal recessive retinitis pigmentosa reveals a genotype–phenotype correlation. Graefes Arch Clin Exp Ophthalmol 260, 3471–3478 (2022). https://doi.org/10.1007/s00417-022-05683-w

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  • DOI: https://doi.org/10.1007/s00417-022-05683-w

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