Retinal nerve fibre layer and macular thickness analysis with Fourier domain optical coherence tomography in subjects with a positive family history for primary open angle glaucoma

Aim To detect early structural changes of retinal nerve fibre layer (RNFL) and macular ganglion cell complex (GCC) in subjects with a positive family history for primary open angle glaucoma (POAG) using Fourier domain optical coherence tomography (FD-OCT) (RTVue-100). Methods This was a cross-sectional observational study. First and second degree relatives of POAG patients, healthy subjects, and subjects with preperimetric glaucoma (PPG) without a family history for glaucoma, were enrolled. All participants underwent complete ophthalmic examination, visual field test and FD-OCT (RTVue-100) imaging. Average RNFL and GCC thicknesses were measured and a pattern analysis was applied to the GCC map. Analysis of variance (ANOVA), least significant difference post-hoc test, and multiple ANOVA were used. Results The final analysis included 271 eyes divided into several groups: 163 eyes of first and second degree relatives (85 healthy, 40 with ocular hypertension and 38 with PPG); and 108 eyes of subjects without a positive family history (60 healthy and 48 PPG). RNFL and GCC thickness values of these five groups were statistically different (p<0.001). RNFL superior, GCC average, GCC superior, and GCC inferior were found to be significantly thinner and the global loss volume was higher in normal relatives than in healthy subjects without a positive family history of POAG (p=0.04, p=0.001, p=0.005, p=0.004, p=0.009). RNFL and GCC thicknesses obtained by dividing the family members by the degree of consanguinity showed statistically significant thinning in siblings of glaucomatous subjects than in offspring. Conclusions Our study shows that the eyes of subjects with a positive family history for POAG have significantly thinner RNFL and GCC than normal eyes and a more accurate follow-up has to be performed.

[1]  Anthony J Correnti,et al.  Optical coherence tomography measurement of macular and nerve fiber layer thickness in normal and glaucomatous human eyes. , 2003, Ophthalmology.

[2]  T. Sørensen,et al.  Evaluation of heredity as a determinant of retinal nerve fiber layer thickness as measured by optical coherence tomography. , 2003, Investigative ophthalmology & visual science.

[3]  A. Sommer,et al.  Clinically detectable nerve fiber atrophy precedes the onset of glaucomatous field loss. , 1991, Archives of ophthalmology.

[4]  M. T. Leite,et al.  Spectral-domain optical coherence tomography for early glaucoma assessment: analysis of macular ganglion cell complex versus peripapillary retinal nerve fiber layer. , 2011, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

[5]  X. Kong,et al.  Influence of Family History as a Risk Factor on Primary Angle Closure and Primary Open Angle Glaucoma in a Chinese population , 2011, Ophthalmic epidemiology.

[6]  I. Schmidtmann,et al.  Diagnostic ability of retinal ganglion cell complex, retinal nerve fiber layer, and optic nerve head measurements by Fourier-domain optical coherence tomography , 2011, Graefe's Archive for Clinical and Experimental Ophthalmology.

[7]  F. Medeiros,et al.  Reproducibility of RTVue retinal nerve fiber layer thickness and optic disc measurements and agreement with Stratus optical coherence tomography measurements. , 2009, American journal of ophthalmology.

[8]  W. V. Stiphout,et al.  Epidemiology in public health practice , 2012 .

[9]  G. Wollstein,et al.  Detection of macular ganglion cell loss in glaucoma by Fourier-domain optical coherence tomography. , 2009, Ophthalmology.

[10]  J. Teikari Genetic factors in open‐angle (simple and capsular) glaucoma , 1987, Acta ophthalmologica.

[11]  A. Lotery,et al.  Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment , 2012, Eye.

[12]  D. Shin,et al.  Family history in primary open-angle glaucoma. , 1977, Archives of ophthalmology.

[13]  F. Medeiros,et al.  Retinal ganglion cell count estimates associated with early development of visual field defects in glaucoma. , 2013, Ophthalmology.

[14]  A. Hofman,et al.  Genetic risk of primary open angle glaucoma , 1998 .

[15]  J. Fingert,et al.  Primary open-angle glaucoma genes , 2011, Eye.

[16]  J. Jonas,et al.  Family history of glaucoma in the primary and secondary open-angle glaucomas , 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

[17]  D. Musch,et al.  Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. , 1999, Journal of glaucoma.

[18]  M. Sugimoto,et al.  Symmetry Analysis for Detecting Early Glaucomatous Changes in Ocular Hypertension Using Optical Coherence Tomography , 2004, Japanese Journal of Ophthalmology.

[19]  Ningli Wang,et al.  Evaluation of optic nerve head and retinal nerve fiber layer in early and advance glaucoma using frequency-domain optical coherence tomography , 2010, Graefe's Archive for Clinical and Experimental Ophthalmology.

[20]  G. Holló,et al.  Reproducibility of retinal nerve fiber layer and macular thickness measurement with the RTVue-100 optical coherence tomograph. , 2010, Ophthalmology.

[21]  Eun Suk Lee,et al.  Structure-function relationship and diagnostic value of macular ganglion cell complex measurement using Fourier-domain OCT in glaucoma. , 2010, Investigative ophthalmology & visual science.

[22]  H. Lemij,et al.  Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. , 2007, Investigative ophthalmology & visual science.

[23]  M. Coote,et al.  Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania. , 2000, Archives of ophthalmology.

[24]  Douglas R. Anderson,et al.  Clinical Decisions In Glaucoma , 1993 .

[25]  Catherine M. Green,et al.  How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania , 2007, Clinical & experimental ophthalmology.

[26]  A. Hofman,et al.  Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. , 1998, Archives of ophthalmology.

[27]  F. Grignolo,et al.  Ganglion cell complex and retinal nerve fiber layer measured by fourier-domain optical coherence tomography for early detection of structural damage in patients with preperimetric glaucoma , 2011, Clinical ophthalmology.

[28]  A. Sommer,et al.  Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey. , 1994, Archives of ophthalmology.

[29]  Mauricio E Pons,et al.  Heidelberg retina tomography and optical coherence tomography in normal, ocular-hypertensive, and glaucomatous eyes. , 1999, Ophthalmology.