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Macular Dystrophies pp 71–81Cite as

X-Linked Retinoschisis

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Abstract

X-linked retinoschisis (MIM#312700) is linked to mutations in RS1 encoding retinoschisin a protein critical for cell-cell adhesion and intercellular matrix interactions. It is a rare inherited disorder with a prevalence estimated between 1/5,000 and 1/20,000, affecting male subjects with female carriers being asymptomatic with only few reports of subtle changes. Age of onset can be as early as pre-school screening. Clinical manifestations are variable even within the same family with little phenotype/genotype correlation. Macular abnormalities are present in virtually all cases, the most typical picture being the classic spoke-wheel appearance of macular cysts. Atrophic lesions will develop in later stages. The full-field electroretinogram is critical for the diagnosis especially in case of atypical presentation or in late stages. It typically reveals an electronegative waveform in response to a standard or bright flash under scotopic conditions with a reduced b/a ratio in keeping with generalized inner retinal dysfunction. The diagnosis can be molecularly confirmed by identifying mutations in RS1. Management will include a careful refraction, low vision aids, school support and anhydrase carbonic inhibitors. Gene therapy trials are underway.

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Author information

Authors and Affiliations

  1. Département de génétique, Institut de la Vision, Paris, France

    Isabelle Audo MD, PhD

  2. Institut de la Vision, Sorbonne Universités, UPMC University Paris 06, UMR_S 968, Paris, France

    Isabelle Audo MD, PhD, José-Alain Sahel MD & Saddek Mohand-Saïd MD, PhD

  3. Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, DHU View Maintain, INSERM-DHOS CIC 1423, Paris, France

    Isabelle Audo MD, PhD, José-Alain Sahel MD & Saddek Mohand-Saïd MD, PhD

  4. INSERM, U968, Paris, France

    Isabelle Audo MD, PhD, José-Alain Sahel MD & Saddek Mohand-Saïd MD, PhD

  5. CNRS, UMR_7210, Paris, France

    Isabelle Audo MD, PhD, José-Alain Sahel MD & Saddek Mohand-Saïd MD, PhD

  6. University College of London Institute of Ophthalmology, London, UK

    Isabelle Audo MD, PhD

  7. Moorfields Eye Hospital, University College London Institute of Ophthalmology, London, UK

    Graham Holder PhD

  8. Department of Ophthalmology, University of California School of Medicine, San Francisco, CA, USA

    Anthony Moore MA, FRCS, FRCOphth, FMedSci

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  1. Isabelle Audo MD, PhD
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  2. José-Alain Sahel MD
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  3. Saddek Mohand-Saïd MD, PhD
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  4. Graham Holder PhD
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  5. Anthony Moore MA, FRCS, FRCOphth, FMedSci
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Correspondence to Isabelle Audo MD, PhD .

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Editors and Affiliations

  1. University Paris Est Créteil, Créteil, France

    Giuseppe Querques

  2. Ophthalmology, University Paris Est Créteil, Créteil, France

    Eric H. Souied

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Audo, I., Sahel, JA., Mohand-Saïd, S., Holder, G., Moore, A. (2016). X-Linked Retinoschisis. In: Querques, G., Souied, E. (eds) Macular Dystrophies. Springer, Cham. https://doi.org/10.1007/978-3-319-26621-3_9

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  • DOI: https://doi.org/10.1007/978-3-319-26621-3_9

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