ArticleClinical genetics2018
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Article in Clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.Frontiers in genetics · 2022Pooled it
- ABCA4-Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants.Molecular genetics & genomic medicine · 2026Article
- Low population penetrance of variants associated with inherited retinal degenerations.American journal of human genetics · 2026Article
- Article
- Retrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.Scientific reports · 2025Article
- Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.Biomolecules · 2024Article
- Methodological Appraisal of Phase 3 Clinical Trials in Geographic Atrophy.Biomedicines · 2023Article
- Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit.Annals of medicine · 2023Article
- Common and rare variants in patients with early onset drusen maculopathy.Clinical genetics · 2022Article
- Biomarkers as Predictive Factors of Anti-VEGF Response.Biomedicines · 2022Review
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- A Case Report ofDiagnostics (Basel, Switzerland) · 2021Article
- Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.Clinical genetics · 2018Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It can be clinically challenging to distinguish dry age-related macular degeneration (AMD) from AMD-mimicking dystrophies, and sometimes misdiagnosis occurs. With upcoming therapies for dry AMD it is important to exclude patients with a different retinal disease from clinical trials. In this study we evaluated the occurrence of AMD-mimicking dystrophies in an AMD cohort. Whole-exome sequencing (WES) was performed in 218 patients with intermediate AMD or geographic atrophy secondary to AMD and 133 control individuals. WES data was analyzed for rare variants in 19 genes associated with autosomal dominant and recessive macular dystrophies mimicking AMD. In three (1.4%) of 218 cases we identified a pathogenic heterozygous variant (PRPH2 c.424C > T; p.R142W) causal for autosomal dominant central areolar choroidal dystrophy (CACD). Phenotypically, these patients all presented with geographic atrophy. In 12 (5.5%) of 218 cases we identified a heterozygous variant of unknown clinical significance, but predicted to be highly deleterious, in genes previously associated with autosomal dominant macular dystrophies. The distinction between AMD and AMD-mimicking dystrophies, such as CACD, can be challenging based on fundus examination alone. Genetic screening for genes associated with macular dystrophies, especially PRPH2, can be beneficial to help identify AMD-mimicking dystrophies.
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