PMID- 21268676 OWN - NLM STAT- MEDLINE DCOM- 20110729 LR - 20211020 IS - 1744-5094 (Electronic) IS - 1381-6810 (Print) IS - 1381-6810 (Linking) VI - 32 IP - 2 DP - 2011 Jun TI - Retinal nerve fiber thickness measurements in choroideremia patients with spectral-domain optical coherence tomography. PG - 101-6 LID - 10.3109/13816810.2010.544364 [doi] AB - PURPOSE: To evaluate the presence of peripapillary retinal nerve fiber layer (RNFL) defects in patients with choroideremia by using spectral-domain optical coherence tomography (SD-OCT). METHODS: Twenty-nine eyes of 16 patients with choroideremia underwent peripapillary RNFL thickness measurements by using SD-OCT. RESULTS: The mean (+/-SD) age of the study population was 44.0 +/- 16.0 years (range, 13-63 years). Thirteen eyes (45%) showed a thinning of the peripapillary RNFL in at least 1 quadrant in either 1 or both eyes. Thinning was most commonly found in the superior (13 eyes) and inferior (10 eyes) quadrants. Twenty-one eyes (72%) showed a thickening of the peripapillary RNFL in at least 1 quadrant in either 1 or both eyes. Of these 21 eyes, all had thickening in the temporal quadrant. Additionally, 2 eyes in each of the other 3 quadrants were found to be abnormally thick. CONCLUSION: Our study demonstrated the presence of defects in the peripapillary RNFL thickness in patients with choroideremia by using SD-OCT. It would be clinically prudent that choroideremia patients considered for various treatment options be considered for RNFL thickness measurements. FAU - Genead, Mohamed A AU - Genead MA AD - Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA. FAU - McAnany, J Jason AU - McAnany JJ FAU - Fishman, Gerald A AU - Fishman GA LA - eng GR - EY01792/EY/NEI NIH HHS/United States GR - P30 EY001792/EY/NEI NIH HHS/United States GR - R00 EY019510/EY/NEI NIH HHS/United States GR - EY019510/EY/NEI NIH HHS/United States GR - K99 EY019510/EY/NEI NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20110126 PL - England TA - Ophthalmic Genet JT - Ophthalmic genetics JID - 9436057 SB - IM MH - Adolescent MH - Adult MH - Choroideremia/*diagnosis/genetics MH - Female MH - Humans MH - Male MH - Middle Aged MH - Mutation, Missense MH - Nerve Fibers/*pathology MH - Optic Nerve/*pathology MH - Optic Nerve Diseases/*diagnosis MH - Prospective Studies MH - Retinal Ganglion Cells/*pathology MH - Tomography, Optical Coherence MH - Visual Acuity/physiology PMC - PMC3358001 MID - NIHMS377526 COIS- Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper EDAT- 2011/01/28 06:00 MHDA- 2011/07/30 06:00 PMCR- 2012/05/22 CRDT- 2011/01/28 06:00 PHST- 2011/01/28 06:00 [entrez] PHST- 2011/01/28 06:00 [pubmed] PHST- 2011/07/30 06:00 [medline] PHST- 2012/05/22 00:00 [pmc-release] AID - 10.3109/13816810.2010.544364 [doi] PST - ppublish SO - Ophthalmic Genet. 2011 Jun;32(2):101-6. doi: 10.3109/13816810.2010.544364. Epub 2011 Jan 26.