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01-04-2011 | Clinical Case Report

Posterior microphthalmos pigmentary retinopathy syndrome

Authors: Niranjan Pehere, Subhadra Jalali, Himanshu Deshmukh, Chitra Kannabiran

Published in: Documenta Ophthalmologica | Issue 2/2011

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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Title: Posterior microphthalmos pigmentary retinopathy syndrome
Authors: Niranjan Pehere
Subhadra Jalali
Himanshu Deshmukh
Chitra Kannabiran
Publication date: 01-04-2011
Publisher: Springer-Verlag
Published in: Documenta Ophthalmologica / Issue 2/2011
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-011-9266-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Posterior microphthalmos pigmentary retinopathy syndrome

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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