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Genotype–Phenotype Association in ABCA4-Associated Retinopathy

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Retinal Degenerative Diseases XIX

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1415))

Abstract

Stargardt disease (STGD1) is the most common inherited retina degeneration. It is caused by biallelic ABCA4 variants, and no treatment is available to date. STGD1 shows marked phenotypic variability, especially regarding the age of onset. The underlying genotype can partially explain this variability. Notably, a subset of ABCA4 variants was previously associated with an earlier disease onset than truncating ABCA4 variants, pointing toward pathogenic mechanisms beyond the loss of gene function in these patients. On the other end of the spectrum, variants such as p.Gly1961Glu were associated with markedly slower extrafoveal disease progression. Given that these drastic differences in phenotype are based on genotype (resulting in important prognostic implications for patients), this chapter reviews previous approaches to genotype–phenotype correlation analyses in STGD1.

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Conflict of Interest Statement

The authors have declared that no conflict of interest exists.

Author information

Authors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Maximilian Pfau, Wadih M. Zein, Laryssa A. Huryn, Catherine A. Cukras, Brett G. Jeffrey, Robert B. Hufnagel & Brian P. Brooks

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  1. Maximilian Pfau
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  2. Wadih M. Zein
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  3. Laryssa A. Huryn
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  4. Catherine A. Cukras
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  5. Brett G. Jeffrey
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  6. Robert B. Hufnagel
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  7. Brian P. Brooks
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Corresponding author

Correspondence to Brian P. Brooks .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

    John D. Ash

  2. Ocular Genomics InstituteDepartment of OphthalmologyMassachusetts Eye and Ear InfirmaryHarvard Medical School, Boston, MA, USA

    Eric Pierce

  3. Health Sciences Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

    Robert E. Anderson

  4. Department of Ophthalmology, Duke Medical Center, Durham, NC, USA

    Catherine Bowes Rickman

  5. Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

    Joe G. Hollyfield

  6. Laboratory for Retinal Cell BiologyDepartment of OphthalmologyUniversity Hospital Zurich, University of Zurich, Schlieren, Switzerland

    Christian Grimm

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Pfau, M. et al. (2023). Genotype–Phenotype Association in ABCA4-Associated Retinopathy. In: Ash, J.D., Pierce, E., Anderson, R.E., Bowes Rickman, C., Hollyfield, J.G., Grimm, C. (eds) Retinal Degenerative Diseases XIX. Advances in Experimental Medicine and Biology, vol 1415. Springer, Cham. https://doi.org/10.1007/978-3-031-27681-1_42

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