eprintid: 10188843
rev_number: 10
eprint_status: archive
userid: 699
dir: disk0/10/18/88/43
datestamp: 2024-03-12 11:02:07
lastmod: 2025-03-05 10:31:38
status_changed: 2024-03-12 11:02:07
type: article
metadata_visibility: show
sword_depositor: 699
creators_name: Zhang, Jingwen
creators_name: de Guimaraes, Thales AC
creators_name: Thompson, Dorothy
creators_name: Michaelides, Michel
title: Shwachman-Diamond syndrome associated with rod-cone dystrophy
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D08
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
abstract: PURPOSE: To report a patient with Shwachman-Diamond syndrome and concomitant rod-cone dystrophy who underwent bone marrow transplantation. METHODS: Retrospective single case report. RESULTS: A female patient with Shwachman-Diamond syndrome was referred to a tertiary hospital to investigate possible pigmentary retinopathy at the age of 16. She described poor night vision and was found to have reduced visual acuity (6/20 right, 6/38 left). Over the ten-year follow-up period, her visual acuity remained relatively stable with no new visual symptoms. Optical coherence tomography revealed progressive, diffuse outer retinal thinning with disruption of the ellipsoid zone, which initially was relatively preserved subfoveally. Fundus autofluorescence images revealed generalised areas of hypoautofluorescence beyond the vascular arcades and a perimacular ring of increased autofluorescence. The flash electroretinogram was in keeping with a severe rod-cone dystrophy. The pattern visual evoked potential was abnormal but detectable indicating macular pathway dysfunction, suggesting encroachment into central macular regions but with some functional preservation. CONCLUSIONS: We report a patient with Shwachman-Diamond syndrome with severe early-onset rod-cone dystrophy noted at the age of 16. Slow anatomical progression has been observed over the subsequent ten years, with relative functional macular preservation to support a visual acuity of 6/36 in both eyes.
date: 2025-03
date_type: published
official_url: https://doi.org/10.1097/ICB.0000000000001568
oa_status: green
full_text_type: other
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 2255871
doi: 10.1097/ICB.0000000000001568
medium: Print-Electronic
pii: 01271216-990000000-00294
lyricists_name: Michaelides, Michel
lyricists_id: MMICH14
actors_name: Michaelides, Michel
actors_id: MMICH14
actors_role: owner
funding_acknowledgements: 099173/Z/12/Z [Wellcome Trust]; CD-CL-0623-0843-UCL [Foundation Fighting Blindness]
full_text_status: public
publication: Retinal Cases & Brief Reports
volume: 19
number: 2
pagerange: 125-156
event_location: United States
issn: 1935-1089
citation:        Zhang, Jingwen;    de Guimaraes, Thales AC;    Thompson, Dorothy;    Michaelides, Michel;      (2025)    Shwachman-Diamond syndrome associated with rod-cone dystrophy.                   Retinal Cases & Brief Reports , 19  (2)   pp. 125-156.    10.1097/ICB.0000000000001568 <https://doi.org/10.1097/ICB.0000000000001568>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10188843/1/shwachman_diamond_syndrome_associated_with.294.pdf