title: Phospholipase A2 group v in benign familial fleck retina in a set of triplets.
abstract: OBJECTIVE
  To evaluate the association of phospholipase A2, Group V (PLA2G5), with benign familial fleck retina in a consanguineous family with triplets.
  
  
  METHODS
  Clinical eye examination, including fundus examination and spectral domain optical coherence tomography, was performed for all the family members. After blood sample collection and DNA extraction, polymerase chain reaction was performed to amplify regions spanning Exons 2, 3, 4, and 5 of PLA2G5. The amplified products were sequenced to observe the presence of any mutations.
  
  
  RESULTS
  Fundus examination in two of the triplets revealed discrete yellow-white flecks and both had good vision and absence of night blindness, consistent with benign familial fleck retina. The flecks were hyperautofluorescent. Furthermore, spectral domain optical coherence tomography showed focal thickening of the retinal pigment epithelium because of the presence of these flecks. Molecular investigations showed that PLA2G5 Exons 2, 4, and 5 harbored no misalignments among all family members. However, PLA2G5 Exon 3 showed a p.Gly45Cys mutation for the father and the third triplet who was affected.
  
  
  CONCLUSIONS
  The clinical findings in this family suggest a diagnosis of benign familial fleck retina with excellent prognosis, in which the PLA2G5 gene may play a role.
authors.affiliation: *Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; and †Department of Ophthalmology, University Malaya Medical Center, Kuala Lumpur, Malaysia.
authors.forename: Ng Jun
authors.initials: NJ
authors.lastname: Bin
authors.forename: Hah Moon
authors.initials: HM
authors.lastname: Heng
authors.forename: Rozaida
authors.initials: R
authors.lastname: Poh
authors.forename: Suzita Mohd
authors.initials: SM
authors.lastname: Noor
authors.forename: Visvaraja
authors.initials: V
authors.lastname: Subrayan
mesh_terms: D000328:Adult; D020137:Base Pair Mismatch; D002648:Child; D003241:Consanguinity; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D054505:Group V Phospholipases A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014310:Triplets / Q000235:genetics*
chemical_list: D054505:Group V Phospholipases A2; C516299:PLA2G5 protein, human