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MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION.
- Source :
-
Retina (Philadelphia, Pa.) [Retina] 2023 Jul 01; Vol. 43 (7), pp. 1165-1173. - Publication Year :
- 2023
-
Abstract
- Purpose: To describe the phenotypic variability and rates of progression of atrophy in patients with PROM1 -associated macular dystrophy.<br />Methods: Patients in this retrospective, longitudinal case series from a tertiary center had clinical examination and multimodal imaging performed. Areas of retinal pigment epithelium and ellipsoid zone loss over time by optical coherence tomography were calculated by two independent graders.<br />Results: Fifteen patients from five kindreds with an Arg373Cys mutation in PROM1 were studied. The average age was 39 years, and 80% were women. The visual acuity was 20/40 at presentation and 20/57 at last follow-up (average 4.8 years). Three distinct macular phenotypes were observed: 1) central geographic atrophy (13%), 2) multifocal geographic atrophy (20%), and 3) bull's eye maculopathy (67%). The overall rate of atrophy progression was 0.36 mm 2 /year, but the average rate of atrophy progression varied by macular phenotype: 1.08 mm 2 /year for central geographic atrophy, 0.53 mm 2 /year for multifocal geographic atrophy, and 0.23 mm 2 /year for bull's eye maculopathy.<br />Conclusion: Patients with PROM1 -associated macular dystrophy demonstrate distinct phenotypes, with bull's eye maculopathy being the most common. The average rate of atrophy progression may be similar to reported rates for ABCA4 -related Stargardt disease and less than age-related macular degeneration. These results provide important measures for following treatment response in future gene and stem cell-based therapies.<br /> (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Opthalmic Communications Society, Inc.)
Details
- Language :
- English
- ISSN :
- 1539-2864
- Volume :
- 43
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Retina (Philadelphia, Pa.)
- Publication Type :
- Academic Journal
- Accession number :
- 36930890
- Full Text :
- https://doi.org/10.1097/IAE.0000000000003784