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Posterior microphthalmos pigmentary retinopathy syndrome.
MedLine Citation:
PMID:  21416382     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Niranjan Pehere; Subhadra Jalali; Himanshu Deshmukh; Chitra Kannabiran
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-18
Journal Detail:
Title:  Documenta ophthalmologica. Advances in ophthalmology     Volume:  -     ISSN:  1573-2622     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370667     Medline TA:  Doc Ophthalmol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Jasti V Ramanamma Children's Eye Care Center, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India.
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