Wide-Field Fundus Autofluorescence Patterns in a Polish Cohort of Genotyped Patients with Phenotype of Retinitis Pigmentosa, Usher Syndrome and Cone–Rod Dystrophy
- 1Department of General and Pediatric Ophthalmology, Medical University of Lublin, 20-079 Lublin, Poland
- 2Department of Biochemistry and Toxicology, Faculty of Animal Sciences and Bioeconomy, University of Life Sciences in Lublin, 20-950 Lublin, Poland
Abstract
To investigate different wide-field fundus autofluorescence (FAF) patterns in a large cohort of Polish patients with inherited retinal dystrophies (IRDs) of different genotypes sorted into groups of at least 5 patients. A total of 103 patients with IRDs and phenotype of retinitis pigmentosa, Usher syndrome and cone–rod dystrophy were included and divided into groups of at least 5 patients based on the outcome of genetic analysis. Ultra-wide field FAF imaging was reviewed to determine patterns of FAF. Ten groups of the same genotype and three patterns of FAF have been distinguished. In the most prevalent USH2A group (26 cases), macular hyperautofluorescence (AF) ring combined with mottled hypo-AF in the periphery was present in 19 cases, the hyper-AF ring alone (including one double ring) was present in 5 cases, while the peripapillary sparing appeared in 2 cases. In the ABCA4 group (22 cases), mottled hypo-AF pattern in the posterior pole and mid-periphery was most prevalent (13 cases), additional peripapillary sparing was present in 4 cases, central hyper-AF ring was present in 3 cases, and characteristic flecks were present in 2 cases. In the RPGR group (15 patients), the most prevalent pattern was a combination of hyper-AF ring and mottled hypo-AF in the periphery (13 cases), while in 2 cases only hypo-AF mottling was present. In PROM1 gene variants (7 patients), mottled hypo-AF in the posterior pole was again the most dominant pattern (6 patients), and there was one case of combined hyper-AF ring and hypo-AF in the periphery. All NR2E3 (5 patients), RP1 (5 patients), RHO (7 patients), CDHR1 (5 patients), PRPF31 (5 patients) and EYS (6 patients) gene pathogenic variants also manifested with hyper-AF ring in the center and patchy hypo-AF spots in the periphery. Only one of the NR2E3 patients demonstrated a double ring. The most prevalent pattern across all groups, excluding ABCA4 and PROM1 groups, is central hyper-AF ring together with patchy hypo-AF in the periphery (72 cases—70%). ABCA4 and PROM1-related RP groups revealed mostly hypo-AF mottled patterns in the posterior pole and periphery, without hyper-AF ring. FAF patterns are very heterogenous, but there are some distinctive features in different genotypes of IRDs.
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BibTeX
@article{pietrasbaczewska2026widefield,
title = {{Wide-Field Fundus Autofluorescence Patterns in a Polish Cohort of Genotyped Patients with Phenotype of Retinitis Pigmentosa, Usher Syndrome and Cone–Rod Dystrophy}},
author = {Agata Pietras-Baczewska and Beata Gajda-Deryło and Katarzyna Ognik and Robert Rejdak and Katarzyna Nowomiejska},
journal = {International Journal of Molecular Sciences},
year = {2026},
month = oct,
doi = {10.3390/ijms27219744},
url = {https://www.mdpi.com/1422-0067/27/21/9744},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Wide-Field Fundus Autofluorescence Patterns in a Polish Cohort of Genotyped Patients with Phenotype of Retinitis Pigmentosa, Usher Syndrome and Cone–Rod Dystrophy
AU - Agata Pietras-Baczewska
AU - Beata Gajda-Deryło
AU - Katarzyna Ognik
AU - Robert Rejdak
AU - Katarzyna Nowomiejska
PY - 2026
DA - 2026/10/30
JO - International Journal of Molecular Sciences
DO - 10.3390/ijms27219744
UR - https://www.mdpi.com/1422-0067/27/21/9744
AB - To investigate different wide-field fundus autofluorescence (FAF) patterns in a large cohort of Polish patients with inherited retinal dystrophies (IRDs) of different genotypes sorted into groups of at least 5 patients. A total of 103 patients with IRDs and phenotype of retinitis pigmentosa, Usher syndrome and cone–rod dystrophy were included and divided into groups of at least 5 patients based on the outcome of genetic analysis. Ultra-wide field FAF imaging was reviewed to determine patterns of FAF. Ten groups of the same genotype and three patterns of FAF have been distinguished. In the most prevalent USH2A group (26 cases), macular hyperautofluorescence (AF) ring combined with mottled hypo-AF in the periphery was present in 19 cases, the hyper-AF ring alone (including one double ring) was present in 5 cases, while the peripapillary sparing appeared in 2 cases. In the ABCA4 group (22 cases), mottled hypo-AF pattern in the posterior pole and mid-periphery was most prevalent (13 cases), additional peripapillary sparing was present in 4 cases, central hyper-AF ring was present in 3 cases, and characteristic flecks were present in 2 cases. In the RPGR group (15 patients), the most prevalent pattern was a combination of hyper-AF ring and mottled hypo-AF in the periphery (13 cases), while in 2 cases only hypo-AF mottling was present. In PROM1 gene variants (7 patients), mottled hypo-AF in the posterior pole was again the most dominant pattern (6 patients), and there was one case of combined hyper-AF ring and hypo-AF in the periphery. All NR2E3 (5 patients), RP1 (5 patients), RHO (7 patients), CDHR1 (5 patients), PRPF31 (5 patients) and EYS (6 patients) gene pathogenic variants also manifested with hyper-AF ring in the center and patchy hypo-AF spots in the periphery. Only one of the NR2E3 patients demonstrated a double ring. The most prevalent pattern across all groups, excluding ABCA4 and PROM1 groups, is central hyper-AF ring together with patchy hypo-AF in the periphery (72 cases—70%). ABCA4 and PROM1-related RP groups revealed mostly hypo-AF mottled patterns in the posterior pole and periphery, without hyper-AF ring. FAF patterns are very heterogenous, but there are some distinctive features in different genotypes of IRDs.
SN - 1422-0067
ER -