Quality of life among caregivers of children with achromatopsia: an exploratory cross-sectional study in a rare disease population
DOI:
https://doi.org/10.12923/2083-4829/2026-0013Keywords:
achromatopsia, caregivers, quality of life, rare diseases, vision disordersAbstract
Introduction and aim. Achromatopsia is a rare congenital retinal disorder that affects children’s visual functioning and may impose psychological burdens on their families. Evidence on the quality of life among caregivers of children with achromatopsia remains limited. The study aimed to assess the quality of life among parents and caregivers of children with achromatopsia and to examine selected sociodemographic factors associated with it.
Methods and materials. A cross-sectional online survey was conducted in November 2023 among 62 parents or legal guardians of children with achromatopsia. Data were collected using a sociodemographic questionnaire and the WHOQOL-BREF. Due to the exploratory character of the study and the small sample size, bivariate analyses were performed using the Mann–Whitney U test.
Results. The scores on the WHOQOL-BREF exceeded 60 points in all domains. The highest mean score was observed in the psychological domain, followed by the social, environmental and physical domains. No statistically significant differences were found according to caregivers’ gender or professional activity. Caregivers aged 40 years and older, as well as those with higher education, reported higher environmental-domain scores.
Conclusions. Caregivers of children with achromatopsia reported moderate-to-good quality of life, while environmental resources emerged as a potential area of inequality. Younger caregivers and those with lower educational attainment may require particular attention. Public health strategies should include accessible disease-specific information, counselling, referral pathways to visual rehabilitation services and family-centred support.
References
1. Chan C, Seitz B, Käsmann-Kellner B. Morphological and functional aspects and quality of life in patients with achromatopsia. J Pers Med. 2023;13(7):1106. https://doi.org/10.3390/jpm13071106
2. Andersen MKG, Jordana JT, Nielsen H, et al. Vision-related quality of life, photoaversion, and optical rehabilitation in achromatopsia. Optom Vis Sci. 2024;101(6):336-341. https://doi.org/10.1097/OPX.0000000000002143
3. Kohl S, Varsanyi B, Antunes GA, et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005;13(3):302-308. https://doi.org/10.1038/sj.ejhg.5201269
4. Felden J, Baumann B, Ali M, et al. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Hum Mutat. 2019;40(8):1145-1155. https://doi.org/10.1002/humu.23768
5. Hirji N, Aboshiha J, Georgiou M, et al. Achromatopsia: clinical features, mo¬lecular genetics, animal models and therapeutic options. Ophthalmic Genet. 2018;39(2):149-157. https://doi.org/10.1080/13816810.2017.1418389
6. Sundaram V, Wilde C, Aboshiha J, et al. Retinal structure and func¬tion in achromatopsia: implications for gene therapy. Ophthalmology. 2014;121(1):234-245. http://doi.org/10.1016/j.ophtha.2013.08.017
7. Michalakis S, Geiger H, Haverkamp S, et al. Impaired opsin target¬ing and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3. Invest Ophthalmol Vis Sci. 2005;46(4):1516-1524. https://doi.org/10.1167/iovs.04-1503
8. Mayer AK, Van Cauwenbergh C, Rother C, et al. CNGB3 mutation spec¬trum including copy number variations in 552 achromatopsia patients. Hum Mutat. 2017;38(11):1579-1591. https://doi.org/10.1002/humu.23311
9. Hanany M, Rivolta C, Sharon D. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proc Natl Acad Sci U S A. 2020;117(5):2710-2716. https://doi.org/10.1073/pnas.1913179117
10. Czerwińska K, Jucharczyk I. Tyflopsychologia. Realizacja zadań rozwo¬jowych w biegu życia przez osoby z niepełnosprawnością wzroku. War¬szawa: Wydawnictwo Naukowe PWN; 2019.
11. Pelentsov LJ, Fielder AL, Laws TA, et al. The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Fam Pract. 2016;17:88. https://doi.org/10.1186/s12875-016-0488-x
12. Domaradzki J, Walkowiak D. Ultra-rare ultra-care: assessing the impact of caring for children with ultra-rare diseases. Eur J Paediatr Neurol. 2024;48:78-84. https://doi.org/10.1016/j.ejpn.2023.12.003
13. Gómez-Zúñiga B, Pulido R, Pousada M, et al. The role of parent/car¬egiver with children affected by rare diseases: navigating between love and fear. Int J Environ Res Public Health. 2021;18(7):3724. https://doi.org/10.3390/ijerph18073724
14. World Health Organization. WHOQOL-BREF: introduction, administra¬tion, scoring and generic version of the assessment. Geneva: World Health Organization; 2012.
15. Jabkowski P, Domaradzki J, Walkowiak D. Quality of life among fam¬ily caregivers of individuals with rare diseases: web-based population study on the validity and reliability of the Polish World Health Organiza¬tion Quality of Life-BREF questionnaire. JMIR Public Health Surveill. 2025;11:e72590. https://doi.org/10.2196/72590
16. von Elm E, Altman DG, Egger M, et al. The Strengthening the Report¬ing of Observational Studies in Epidemiology statement: guidelines for reporting observational studies. Lancet. 2007;370(9596):1453-1457. https://doi.org/10.1016/S0140-6736(07)61602-X
17. Lupón M, Armayones M, Cardona G. Quality of life of caregivers of chil¬dren with visual impairment: a qualitative approach. Res Dev Disabil. 2023;138:104538. https://doi.org/10.1016/j.ridd.2023.104538
18. Hamblion EL, Moore AT, Rahi JS. The health-related quality of life of children with hereditary retinal disorders and the psychosocial impact on their families. Invest Ophthalmol Vis Sci. 2011;52(11):7981-7986. https://doi.org/10.1167/iovs.11-7890
19. Adedeji A, Witt S, Innig F, et al. Coping and quality of life of parents of children with achondroplasia: a narrative review. Front Med (Lausanne). 2025;12:1500389. https://doi.org/10.3389/fmed.2025.1500389
20. Eshel YM, Abaev O, Yahalom C. Achromatopsia: long-term visual perfor¬mance and clinical characteristics. Eur J Ophthalmol. 2024;34(4):986-991. https://doi.org/10.1177/11206721231212768
21. Brunetti-Pierri R, Karali M, Melillo P, et al. Clinical and molecular char¬acterization of achromatopsia patients: a longitudinal study. Int J Mol Sci. 2021;22(4):1681. https://doi.org/10.3390/ijms22041681
22. Hashemi H, Fotouhi A, Yekta A, et al. Global and regional estimates of prevalence of refractive errors: systematic review and meta-analysis. J Curr Ophthalmol. 2018;30(1):3-22. https://doi.org/10.1016/j.joco.2017.08.009
23. Khoshhal S, Al-Harbi K, Al-Mozainy I, et al. Assessment of quality of life among parents of children with congenital heart disease using WHOQOL¬BREF: a cross-sectional study from Northwest Saudi Arabia. Health Qual Life Outcomes. 2019;17(1):183. https://doi.org/10.1186/s12955-019-1249-z
24. Harputluoğlu N, Alkan Özdemir S, Yılmaz Ü, et al. Evaluation of pri¬mary caregiver parents’ quality of life in pediatric palliative care with the WHOQOL-BREF (TR). Turk Arch Pediatr. 2021;56(5):429-439. https://doi.org/10.5152/TurkArchPediatr.2021.20262
25. Ali U, Bharuchi V, Ali NG, et al. Assessing the quality of life of parents of chil¬dren with disabilities using WHOQOL-BREF during COVID-19 pandemic. Front Rehabil Sci. 2021;2:708657. https://doi.org/10.3389/fresc.2021.708657
26. Ljubičić M, Delin S, Kolčić I. Family and individual quality of life in par¬ents of children with developmental disorders and diabetes type 1. J Clin Med. 2022;11(10):2861. https://doi.org/10.3390/jcm11102861
27. Tedla JS, Asiri F, Reddy RS, et al. Caregiver’s quality of life among chil¬dren with cerebral palsy in the Kingdom of Saudi Arabia, and various influ¬encing factors: a single cohort study. J Multidiscip Healthc. 2023;16:3705¬3714. https://doi.org/10.2147/JMDH.S440190
28. Handayani F, Kusumaningrum NSD, Dwidiyanti M. The correlation between caregivers burden and quality of life among family caregiv¬ers of stroke survivors: the mediating role of resilience. Nurs Res Rev. 2024;14:91-102. https://doi.org/10.2147/NRR.S435548
29. Domaradzki J, Walkowiak D, Polewska A, et al. Rare disease, common struggles: quality of life, caregiver burden and financial strain among Pol¬ish caregivers of people with rare diseases. Sci Rep. 2025;15(1):11245. https://doi.org/10.1038/s41598-025-87671-4
30. Perrault MA, Lauer G, Voss S, et al. Visual impairment and low vision aids: a comparison between children and adults. J Pers Med. 2023;13(11):1608. https://doi.org/10.3390/jpm13111608
31. Strupaite-Šileikiene R, Kavaliukaite L, Tumiene B, et al. Quality of life of achromatopsia patients. J Ophthalmic Vis Res. 2022;17(3):441-443.
