title: Posterior microphthalmos pigmentary retinopathy syndrome.
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.
authors.affiliation: Jasti V Ramanamma Children's Eye Care Center, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India.
authors.forename: Niranjan
authors.initials: N
authors.lastname: Pehere
authors.forename: Subhadra
authors.initials: S
authors.lastname: Jalali
authors.forename: Himanshu
authors.initials: H
authors.lastname: Deshmukh
authors.forename: Chitra
authors.initials: C
authors.lastname: Kannabiran
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008850:Microphthalmos / Q000235:genetics* / Q000503:physiopathology; D009755:Night Blindness; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome; D000099274:Frizzled-Related Proteins
chemical_list: D008565:Membrane Proteins; C490110:MFRP protein, human; D000099274:Frizzled-Related Proteins