Journal article
Retinal thickness and visual acuity in early-onset Stargardt disease follow a non-linear progression curve: implications for clinical trials
Ophthalmic genetics, Vol.46(3), pp.249-255
05/04/2025
DOI: 10.1080/13816810.2025.2470212
PMID: 40000365
Abstract
We retrospectively evaluated early-onset, autosomal recessive Stargardt disease in younger siblings from affected sibships using longitudinal analysis of visual acuity and multimodal imaging.
Methods
Between 2002 and 2022, two sibships (n = 4, n = 2) with molecularly-confirmed Stargardt disease had younger affected siblings with clinical data obtained prior to the onset of vision loss. Measurement of best-corrected visual acuity and acquisition of color fundus photographs, autofluorescence, SLO, and OCT imaging were performed as part of routine clinical care.
Results
Both sibships presented with early-onset vision loss between 5-9 years old. Fundus autofluorescence changes and a thickened external limiting membrane on OCT were the first biomarkers observed in the youngest siblings. Decline in visual acuity and total thickness in the fovea followed a distinct, three-phase course (initial, acute, slow/stable). The timing of the second (acute) phase of acuity loss differed by up to 5 years between siblings within a sibship. Loss of total retinal thickness in the fovea preceded the greatest drop in visual acuity.
Discussion
Clinical trials must account for interrelationship between structure and function and the heterogeneity among patients sharing the same genotype, which suggests the action of unidentified modifiers.
Details
- Title: Subtitle
- Retinal thickness and visual acuity in early-onset Stargardt disease follow a non-linear progression curve: implications for clinical trials
- Creators
- S Scott Whitmore - University of Iowa, The University of Iowa Institute for Vision ResearchDouglas B Critser - University of Iowa, The University of Iowa Institute for Vision ResearchEdwin M Stone - University of Iowa, Iowa Neuroscience InstituteIan C Han - University of Iowa, Ophthalmology and Visual Sciences
- Resource Type
- Journal article
- Publication Details
- Ophthalmic genetics, Vol.46(3), pp.249-255
- DOI
- 10.1080/13816810.2025.2470212
- PMID
- 40000365
- NLM abbreviation
- Ophthalmic Genet
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Publisher
- TAYLOR & FRANCIS INC; PHILADELPHIA
- Language
- English
- Electronic publication date
- 02/25/2025
- Date published
- 05/04/2025
- Academic Unit
- The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Ophthalmology and Visual Sciences
- Record Identifier
- 9984796077102771
Metrics
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