Vision-Related Quality of Life in Patients with Inherited Retinal Dystrophies

Shojaei, Saeideh; Sabbaghi, Hamideh; Mehrabi, Yadollah; Daftarian, Narsis; Etemad, Koorosh; Ahmadieh, Hamid

doi:10.4103/joco.joco_172_21

Cited by 6 publications

(2 citation statements)

References 29 publications

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“…Average NEI‐VFQ‐25 composite scores of 45–47 have previously been reported among people with IRDs, similar but slightly lower than our findings (Schofield et al., 2022; Shojaei et al., 2022). A higher mean composite score (69) was observed following administration of the Japanese version of the instrument among adults with retinitis pigmentosa (also known as rod‐cone dystrophy), a progressive IRD with widespread photoreceptor loss (Sugawara et al., 2011).…”

Section: Discussionsupporting

confidence: 83%

EQ‐5D‐5L health utility scores in Australian adults with inherited retinal diseases: A cross‐sectional survey

McGuinness,

Ayton,

Schofield

et al. 2024

Acta Ophthalmologica

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PurposeEconomic evaluations of interventions for ocular disease require utility scores that accurately represent quality of life in the target population. This study aimed to describe the distribution of EQ‐5D‐5L utility values among Australian adults with symptomatic inherited retinal diseases (IRDs) and to assess the relationship between these scores and vision‐related quality of life.MethodsA survey was administered predominantly online in 2021. Participants completed the EQ‐5D‐5L general health utility instrument, the EQ vertical visual analogue scale (EQ‐VAS) and the National Eye Institute Visual Functioning Questionnaire (NEI‐VFQ‐25). Self‐reported IRD diagnoses were classified as being associated with central or widespread retinal involvement.ResultsResponses from 647 participants aged 18–93 years were included, 50.1% were men and 77.6% had an IRD associated with widespread retinal involvement. The majority reported no problems with self‐care and no pain/discomfort but did report anxiety/depression and problems with work, study, housework, or family/leisure activities. Most people with widespread involvement reported problems with mobility. Median EQ‐5D‐5L utility was 0.88 and 0.91 among people with widespread and central involvement, respectively (age and sex‐adjusted p = 0.029); and median EQ‐VAS was 75 and 80, respectively (adjusted p = 0.003). A moderate curvilinear correlation was observed between EQ‐5D‐5L and NEI‐VFQ‐25 composite score (Spearman's ρ 0.69), but not all people with poor vision‐related quality of life had low EQ‐5D‐5L utility values.ConclusionsEQ‐5D‐5L health utility values are correlated with vision‐related quality of life among adults with IRDs. However, the EQ‐5D‐5L may not be sensitive to the full impact of vision impairment on quality of life.

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Section: Discussionsupporting

confidence: 83%

EQ‐5D‐5L health utility scores in Australian adults with inherited retinal diseases: A cross‐sectional survey

McGuinness,

Ayton,

Schofield

et al. 2024

Acta Ophthalmologica

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“…all of which usually worsen with age [ 3 ]. Thus, they are a major cause of vision loss, impacting the patients’ and their families’ quality of life [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

The genetic landscape of inherited retinal dystrophies in Arabs

et al. 2023

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Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically, exhibiting substantial differences worldwide. To shed more light on these conditions, we investigated the genetic and phenotypic landscape of IRDs in the Arabs globally and per country.We analyzed 1,621 affected individuals from 16 Arabic countries reported in 198 articles. At the phenotypic level, rod-cone dystrophy (RCD) and Usher syndrome were the most prevalent conditions among non-syndromic and syndromic IRDs. At the gene level, TULP1, ABCA4, RP1, CRB1, MYO7A, RPE65, KCNV2, and IMPG2 were the most mutated genes. Interestingly, all except CRB1 were highly prevalent because they harbored founder mutations, implying that consanguinity is a major determinant in Arab countries. Of note, ~ 93% of the investigated individuals carried homozygous mutations. The country analysis for the IRDs conditions and their associated genotypes revealed that whereas Leber Congenital Amaurosis, RCD, and USHER syndrome were widely distributed, bestrophinopathies and non-syndromic hearing loss were restricted to specific countries (till now).This study could be a starting point for initiating suitable health policies towards IRDs in the Arab world. The high degree of homozygosity urges the need for genetic counsellors to provide personalized information and support the affected individuals.

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