PMID- 36946380
OWN - NLM
STAT- MEDLINE
DCOM- 20230712
LR  - 20230718
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
VI  - 44
IP  - 4
DP  - 2023 Aug
TI  - Self-reported visual function and psychosocial impact of visual loss in 
      EYS-associated retinal degeneration in a Portuguese population.
PG  - 334-340
LID - 10.1080/13816810.2023.2191708 [doi]
AB  - PURPOSE: To evaluate self-reported visual function and the psychosocial impact of 
      visual loss EYS-associated retinal degeneration (EYS-RD) using two 
      patient-reported outcome (PRO) measures: Michigan Retinal Degeneration 
      Questionnaire (MRDQ) and Michigan Vision-related Anxiety Questionnaire (MVAQ). 
      METHODS: Cross-sectional, single-center study conducted at a tertiary care 
      hospital in Portugal. Patients with biallelic EYS variants were invited to 
      participate. Clinical data including demographics, ETDRS best-corrected visual 
      acuity (BCVA) in the better-seeing eye and genetic testing results were 
      collected. Interviews were carried out during clinic visits or by phone between 
      November 2021 and February 2022. A blind grader used horizontal and vertical 
      spectral domain optical coherence tomography (SD-OCT) scans to manually measure 
      ellipsoid zone (EZ) width in the nasal, temporal, superior and inferior macular 
      quadrants to calculate the EZ area. RESULTS: Forty-nine patients (53.1% males; 
      mean age 53 +/- 14 years) were included. A positive correlation (p < .05) was found 
      between age and most MRDQ domain scores (central vision, color vision, contrast 
      sensitivity, scotopic function, photopic peripheral vision and mesopic peripheral 
      vision). A negative correlation was found between both BCVA and EZ area across 
      all MRDQ domains. In MVAQ, SD-OCT EZ area negatively correlated with both rod 
      function and cone function-related anxiety. Neither age, BCVA or gender 
      correlated with MVAQ domains. CONCLUSIONS: This study provides strong evidence 
      supporting a correlation between PRO measures and both functional and structural 
      clinician-reported outcomes. The use of MRDQ and MVAQ adds a new dimension to our 
      understanding of EYS-RD and establishes both PRO measures as important disease 
      outcome measures.
FAU - Marques, Joao Pedro
AU  - Marques JP
AUID- ORCID: 0000-0002-1014-0483
AD  - Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra (CHUC), Coimbra, 
      Portugal.
AD  - Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
AD  - Faculty of Medicine, University of Coimbra, Coimbra Institute for Clinical and 
      Biomedical Research (iCBR), Coimbra, Portugal.
AD  - Association for Innovation and Biomedical Research on Light and Image (AIBILI), 
      Coimbra, Portugal.
AD  - University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra 
      (FMUC), Coimbra, Portugal.
FAU - Machado Soares, Ricardo
AU  - Machado Soares R
AD  - Department of Ophthalmology, Centro Hospitalar de Vila Nova de Gaia e Espinho 
      (CHVNGE), Gaia, Portugal.
FAU - Simao, Silvia
AU  - Simao S
AD  - Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra (CHUC), Coimbra, 
      Portugal.
FAU - Abuzaitoun, Rebhi
AU  - Abuzaitoun R
AD  - Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University 
      of Michigan Medical School, Ann Arbor, Michigan, USA.
FAU - Andrews, Chris
AU  - Andrews C
AD  - Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University 
      of Michigan Medical School, Ann Arbor, Michigan, USA.
FAU - Alves, C Henrique
AU  - Alves CH
AD  - Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
AD  - Faculty of Medicine, University of Coimbra, Coimbra Institute for Clinical and 
      Biomedical Research (iCBR), Coimbra, Portugal.
AD  - Association for Innovation and Biomedical Research on Light and Image (AIBILI), 
      Coimbra, Portugal.
AD  - Center for Innovative Biomedicine and Biotechnology (CIBB), University of 
      Coimbra, Coimbra, Portugal.
FAU - Ambrosio, Antonio Francisco
AU  - Ambrosio AF
AD  - Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
AD  - Faculty of Medicine, University of Coimbra, Coimbra Institute for Clinical and 
      Biomedical Research (iCBR), Coimbra, Portugal.
AD  - Association for Innovation and Biomedical Research on Light and Image (AIBILI), 
      Coimbra, Portugal.
AD  - Center for Innovative Biomedicine and Biotechnology (CIBB), University of 
      Coimbra, Coimbra, Portugal.
FAU - Murta, Joaquim
AU  - Murta J
AD  - Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra (CHUC), Coimbra, 
      Portugal.
AD  - Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
AD  - Faculty of Medicine, University of Coimbra, Coimbra Institute for Clinical and 
      Biomedical Research (iCBR), Coimbra, Portugal.
AD  - Association for Innovation and Biomedical Research on Light and Image (AIBILI), 
      Coimbra, Portugal.
AD  - University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra 
      (FMUC), Coimbra, Portugal.
FAU - Silva, Rufino
AU  - Silva R
AD  - Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra (CHUC), Coimbra, 
      Portugal.
AD  - Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
AD  - Faculty of Medicine, University of Coimbra, Coimbra Institute for Clinical and 
      Biomedical Research (iCBR), Coimbra, Portugal.
AD  - Association for Innovation and Biomedical Research on Light and Image (AIBILI), 
      Coimbra, Portugal.
AD  - University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra 
      (FMUC), Coimbra, Portugal.
FAU - Abalem, Maria Fernanda
AU  - Abalem MF
AD  - Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University 
      of Michigan Medical School, Ann Arbor, Michigan, USA.
AD  - Department of Ophthalmology and Otolaryngology, University of Sao Paulo Medical 
      School, Sao Paulo, Brazil.
FAU - Jayasundera, K Thiran
AU  - Jayasundera KT
AD  - Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University 
      of Michigan Medical School, Ann Arbor, Michigan, USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230322
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
RN  - 0 (EYS protein, human)
RN  - 0 (Eye Proteins)
SB  - IM
MH  - Male
MH  - Humans
MH  - Adult
MH  - Middle Aged
MH  - Aged
MH  - Female
MH  - *Retinal Degeneration/genetics
MH  - Portugal
MH  - Self Report
MH  - Cross-Sectional Studies
MH  - Visual Acuity
MH  - Vision Disorders
MH  - Tomography, Optical Coherence/methods
MH  - Eye Proteins/genetics
OTO - NOTNLM
OT  - EYS
OT  - Retinal dystrophies
OT  - patient-reported outcomes
OT  - quality of life
OT  - visual function
EDAT- 2023/03/23 06:00
MHDA- 2023/07/12 06:42
CRDT- 2023/03/22 07:02
PHST- 2023/07/12 06:42 [medline]
PHST- 2023/03/23 06:00 [pubmed]
PHST- 2023/03/22 07:02 [entrez]
AID - 10.1080/13816810.2023.2191708 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 2023 Aug;44(4):334-340. doi: 10.1080/13816810.2023.2191708. 
      Epub 2023 Mar 22.