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Phospholipase A2 group v in benign familial fleck retina in a set of triplets.
Retina. 2015 Jun; 35(6):1266-72.R

Abstract

PURPOSE

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.

CONCLUSION

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+Show Affiliations

*Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; and †Department of Ophthalmology, University Malaya Medical Center, Kuala Lumpur, Malaysia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25549071

Citation

Bin, Ng Jun, et al. "Phospholipase A2 Group V in Benign Familial Fleck Retina in a Set of Triplets." Retina (Philadelphia, Pa.), vol. 35, no. 6, 2015, pp. 1266-72.
Bin NJ, Heng HM, Poh R, et al. Phospholipase A2 group v in benign familial fleck retina in a set of triplets. Retina. 2015;35(6):1266-72.
Bin, N. J., Heng, H. M., Poh, R., Noor, S. M., & Subrayan, V. (2015). Phospholipase A2 group v in benign familial fleck retina in a set of triplets. Retina (Philadelphia, Pa.), 35(6), 1266-72. https://doi.org/10.1097/IAE.0000000000000446
Bin NJ, et al. Phospholipase A2 Group V in Benign Familial Fleck Retina in a Set of Triplets. Retina. 2015;35(6):1266-72. PubMed PMID: 25549071.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phospholipase A2 group v in benign familial fleck retina in a set of triplets. AU - Bin,Ng Jun, AU - Heng,Hah Moon, AU - Poh,Rozaida, AU - Noor,Suzita Mohd, AU - Subrayan,Visvaraja, PY - 2014/12/31/entrez PY - 2014/12/31/pubmed PY - 2015/11/5/medline SP - 1266 EP - 72 JF - Retina (Philadelphia, Pa.) JO - Retina VL - 35 IS - 6 N2 - PURPOSE: 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. CONCLUSION: 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. SN - 1539-2864 UR - https://wwww.unboundmedicine.com/medline/citation/25549071/Phospholipase_A2_group_v_in_benign_familial_fleck_retina_in_a_set_of_triplets_ L2 - https://doi.org/10.1097/IAE.0000000000000446 DB - PRIME DP - Unbound Medicine ER -