Dataset Information

Erdafitinib-Induced Secondary Maculopathy.

ABSTRACT:

Purpose

This work presents a case of secondary maculopathy associated with the use of erdafitinib (Balversa) for the management of bladder urothelial carcinoma with bony metastasis.

Methods

A case report is presented.

Results

A 58-year-old Hispanic man presented with blurry vision 3 weeks after starting erdafitinib for the management of bony metastases associated with urothelial carcinoma. A comprehensive evaluation identified multiple areas of subretinal fluid induced by erdafitinib. Throughout treatment, the ocular condition progressed, causing worsening of vision; this led to discontinuation of the drug. Discontinuation was associated with visual and anatomic function improvement.

Conclusions

Fibroblast growth factor receptor (FGFR) plays a major role in maintaining mature and premature retinal pigment epithelium cells. Drugs that inhibit the FGFR pathway block the activation of the mitogen-activated protein kinase pathway, leading to synthesis of antiapoptotic proteins. Erdafitinib is associated with ocular toxicity and leads to multifocal pigment epithelial detachments associated with secondary subretinal fluid.

SUBMITTER: Becker B

PROVIDER: S-EPMC9976033 | biostudies-literature | 2022 Jul-Aug

REPOSITORIES: biostudies-literature

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Publications

Erdafitinib-Induced Secondary Maculopathy.

Becker Brian B El Hamichi Sophia S Gold Aaron S AS Murray Timothy G TG

Journal of vitreoretinal diseases 20220603 4

<h4>Purpose</h4>This work presents a case of secondary maculopathy associated with the use of erdafitinib (Balversa) for the management of bladder urothelial carcinoma with bony metastasis.<h4>Methods</h4>A case report is presented.<h4>Results</h4>A 58-year-old Hispanic man presented with blurry vision 3 weeks after starting erdafitinib for the management of bony metastases associated with urothelial carcinoma. A comprehensive evaluation identified multiple areas of subretinal fluid induced by e ...[more]

PMID: 37007917

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Project description:BackgroundChloroquine (CQ) and hydroxychloroquine (HCQ) are used to treat auto-immune related diseases such as rheumatoid arthritis (RA) or systemic lupus erythematosus. Both drugs however can cause retinal toxicity eventually leading to irreversible maculopathy and retinopathy. Established risk factors are duration and dosage of treatment while the involvement of genetic factors contributing to toxic maculopathy is largely unclear. To address the latter issue, this study aimed to expand on earlier efforts by (1) evaluating risk-altering variants known to be associated with age-related macular degeneration (AMD), a frequent maculopathy in individuals over 55 years of age, and (2) determining the contribution of genetic variants in the coding sequence of the ABCA4 gene.MethodsThe ABCA4 gene was analyzed by deep sequencing technology using a personal genome machine (Ion Torrent) with 200 bp read length. Assessment of AMD variants was done by restriction enzyme digestion of PCR products and TaqMan SNP genotyping. Effect sizes, p-values and confidence intervals of common variants were evaluated by logistic regression (Firth's bias corrected). To account for multiple testing, p-values were adjusted according to the false discovery rate.ResultsWe found no effects of known AMD-associated variants on the risk of toxic maculopathy. In contrast, we report a statistically significant association of common variants in the ABCA4 gene with retinal disease, assessed by a score-based variance-component test (PSKAT = 0.0055). This association remained significant after adjustment for environmental factors like age and duration of medication and was driven by three common variants in ABCA4 (c.5682G > C, c.5814A > G, c.5844A > G), all conferring a reduced risk for toxic maculopathy.ConclusionsOur findings demonstrate that minor alleles of common genetic variants in ABCA4 significantly reduce susceptibility to develop toxic maculopathy under CQ treatment. A refined risk profile based on genetic and environmental factors may have implications for revised recommendations in CQ as well as HCQ treatment.

Dataset Information

Erdafitinib-Induced Secondary Maculopathy.

Purpose

Methods

Results

Conclusions

Publications

Erdafitinib-Induced Secondary Maculopathy.

Similar Datasets

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