eprintid: 10205568
rev_number: 6
eprint_status: archive
userid: 699
dir: disk0/10/20/55/68
datestamp: 2025-03-04 11:18:37
lastmod: 2025-03-04 11:18:37
status_changed: 2025-03-04 11:18:37
type: article
metadata_visibility: show
sword_depositor: 699
creators_name: Allon, Gilad
creators_name: Lin, Siying
creators_name: Robson, Anthony G
creators_name: Arno, Gavin
creators_name: Neveu, Magella M
creators_name: Hysi, Pirro G
creators_name: Michaelides, Michel
creators_name: Webster, Andrew R
creators_name: Mahroo, Omar A
title: Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D08
keywords: Humans, Male, Female, Middle Aged, Adult, Visual Acuity, Retrospective Studies, Tomography, Optical Coherence, Electroretinography, Aged, Pedigree, Young Adult, Guanylate Cyclase, Mutation, DNA Mutational Analysis, Fluorescein Angiography, Adolescent, Retinal Diseases
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abstract: PURPOSE: To report findings in GUCA1A-associated retinopathy, a rare autosomal-dominant retinopathy. METHODS: Clinical features and investigations from molecularly confirmed patients at a large referral center were analyzed (retrospective cohort study). RESULTS: Nineteen patients (14 families), with five different variants, were included: p.(Tyr99Cys) in 10 families and p.(Leu84Phe), p.(Ile107Thr), p.(Glu111Ala), and p.(leu176Phe) in 1 family each. Mean (SD) ages at first and last visits were 38 (17) and 48 (15) years, respectively. Mean (SD) logMAR visual acuities at the first and last visits were 0.67 (0.61) and 0.94 (0.58) for right eyes and 0.63 (0.63) and 0.95 (0.74) for left eyes. Acuities ranged from 0.00 logMAR to no light perception. Most described progressive problems with central and color vision. Across 144 patient visits, logMAR acuity correlated with age (Spearman coefficients of 0.43 and 0.54 for right and left eyes, P < 0.001), with a high interocular correlation (coefficient 0.90, P < 0.001). Optical coherence tomography showed irregularity and then loss of the central ellipsoid zone. Ultra-widefield imaging showed peripheral degeneration in some patients. Electrophysiology (n = 13) was consistent with cone dystrophy (n = 11) or macular dystrophy (n = 2). Compared with the common p.(Tyr99Cys) variant, patients with p.(Glu111Ala) (n = 2) had worse vision; those with p.(Leu84Phe) (n = 3) were younger with earlier-onset visual loss. Patients with p.(Ile107Thr) (n = 2) showed later presentation, with milder acuity reduction. CONCLUSIONS: We present genotypic and phenotypic findings from the largest cohort with GUCA1A retinopathy. Most had progressive visual loss and electrophysiologic evidence of cone dystrophy. Possible genotype-phenotype correlations emerged, but subgroups were small for four of five variants.
date: 2025-02-03
date_type: published
publisher: Association for Research in Vision and Ophthalmology (ARVO)
official_url: https://doi.org/10.1167/iovs.66.2.50
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 2363566
doi: 10.1167/iovs.66.2.50
medium: Print
pii: 2802604
lyricists_name: Lin, Siying
lyricists_name: Michaelides, Michel
lyricists_name: Mahroo, Omar
lyricists_id: SLINC18
lyricists_id: MMICH14
lyricists_id: MMAHR47
actors_name: Mahroo, Omar
actors_id: MMAHR47
actors_role: owner
funding_acknowledgements: [Wellcome Trust]
full_text_status: public
publication: Investigative Ophthalmology & Visual Science (IOVS)
volume: 66
number: 2
article_number: 50
event_location: United States
citation:        Allon, Gilad;    Lin, Siying;    Robson, Anthony G;    Arno, Gavin;    Neveu, Magella M;    Hysi, Pirro G;    Michaelides, Michel;         ... Mahroo, Omar A; + view all <#>        Allon, Gilad;  Lin, Siying;  Robson, Anthony G;  Arno, Gavin;  Neveu, Magella M;  Hysi, Pirro G;  Michaelides, Michel;  Webster, Andrew R;  Mahroo, Omar A;   - view fewer <#>    (2025)    Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.                   Investigative Ophthalmology & Visual Science (IOVS) , 66  (2)    , Article 50.  10.1167/iovs.66.2.50 <https://doi.org/10.1167/iovs.66.2.50>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10205568/1/Clinical%2C%20Genetic%2C%20Imaging%20and%20Electrophysiological%20Findings%20in%20a%20Cohort%20of%20Patients%20With%20GUCA1A-Associated%20Retinopathy.pdf