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Posterior microphthalmos pigmentary retinopathy syndrome

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Abstract

Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements. Herein, we report two siblings with posterior microphthalmos retinopathy syndrome with postulated autosomal recessive mode of inheritance. A 13-year-old child had PM and retinitis pigmentosa (RP) and his 7-year-old sister had PM, RP, and foveoschisis. The genetics of this syndrome and variable phenotype is discussed. Importance of being aware of posterior microphthalmos and its posterior segment associations is highlighted.

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Acknowledgments

We are grateful to Hyderabad Eye Research Foundation for funding this work.

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Authors and Affiliations

  1. Jasti V Ramanamma Children’s Eye Care Center, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India

    Niranjan Pehere & Subhadra Jalali

  2. Smt Kanuri Santhamma Centre for Vitreo-Retinal Diseases, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, 500 034, India

    Subhadra Jalali

  3. Retina-Vitreous and Uvea, Drushti Foundation, Amravati, Maharashtra, India

    Himanshu Deshmukh

  4. Kallam Anji Reddy Molecular Genetics Laboratory, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India

    Chitra Kannabiran

Authors
  1. Niranjan Pehere
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  2. Subhadra Jalali
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  3. Himanshu Deshmukh
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  4. Chitra Kannabiran
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Corresponding author

Correspondence to Subhadra Jalali.

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Pehere, N., Jalali, S., Deshmukh, H. et al. Posterior microphthalmos pigmentary retinopathy syndrome. Doc Ophthalmol 122, 127–132 (2011). https://doi.org/10.1007/s10633-011-9266-1

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  • DOI: https://doi.org/10.1007/s10633-011-9266-1

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