Macular Atrophy and Phenotypic Variability in Autosomal Dominant Stargardt-like Macular Dystrophy due to PROM1 mutation

Aaron M Ricca; Ian C Han; Jeremy Hoffman; Edwin M Stone; Elliott H Sohn

doi:10.1097/IAE.0000000000003784

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Macular Atrophy and Phenotypic Variability in Autosomal Dominant Stargardt-like Macular Dystrophy due to PROM1 mutation

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Macular Atrophy and Phenotypic Variability in Autosomal Dominant Stargardt-like Macular Dystrophy due to PROM1 mutation

Aaron M Ricca, Ian C Han, Jeremy Hoffman, Edwin M Stone and Elliott H Sohn

Retina (Philadelphia, Pa.), Vol.43(7), pp.1165-1173

07/2023

DOI: 10.1097/IAE.0000000000003784

PMCID: PMC10278565

PMID: 36930890

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Abstract

To describe the phenotypic variability and rates of progression of atrophy in patients with PROM1-associated macular dystrophy (PAMD). Patients in this retrospective, longitudinal case series from a tertiary center had clinical exam and multi-modal imaging performed. Areas of retinal pigment epithelium and ellipsoid zone loss over time via OCT were calculated by two independent graders. Fifteen patients from five kindreds with an Arg373Cys mutation in PROM1 were studied. Average age was 39 years; 80% were female. 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 (GA;13%), 2) multifocal GA (20%), and 3) bull's eye maculopathy (BEM;67%). Overall rate of atrophy progression was 0.36 mm2/year, but the average rate of atrophy progression varied by macular phenotype: 1.08 mm2/year for central GA; 0.53 mm2/year for multifocal GA; and, 0.23 mm2/year for BEM. Patients with PAMD demonstrate distinct phenotypes, with BEM being the most common. 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.

Details

Title: Subtitle: Macular Atrophy and Phenotypic Variability in Autosomal Dominant Stargardt-like Macular Dystrophy due to PROM1 mutation
Creators: Aaron M Ricca - Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, IA
Ian C Han - University of Iowa
Jeremy Hoffman - Institute for Vision Research, University of Iowa
Edwin M Stone - University of Iowa
Elliott H Sohn - University of Iowa
Resource Type: Journal article
Publication Details: Retina (Philadelphia, Pa.), Vol.43(7), pp.1165-1173
DOI: 10.1097/IAE.0000000000003784
PMID: 36930890
PMCID: PMC10278565
NLM abbreviation: Retina
ISSN: 0275-004X
eISSN: 1539-2864
Language: English
Electronic publication date: 03/15/2023
Date published: 07/2023
Academic Unit: The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Fraternal Order of Eagles Diabetes Research Center; Ophthalmology and Visual Sciences
Record Identifier: 9984380463602771

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