Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study

Background/aimCharacterising genetic effect on macular retinal nerve fibre layer (RNFL) is needed to obtain better understanding of various retinopathies and optic neuropathies. The purpose of this study was to evaluate genetic influence on macular RNFL thickness.MethodsThis is a cross-sectional, twin and family study. Three hundred and sixty-two Korean adults with healthy eyes were included in the study from 79 households with two or more family members. Macular RNFL thickness was measured with optical coherence tomography at nine macular subfields defined by the ETDRS. Intraclass correlation coefficients (ICCs) were estimated to assess intrafamilial resemblance of RNFL thickness by different types of family relationship. Heritability of RNFL thickness was evaluated using variance decomposition model.ResultsRNFL thickness increased from central subfield to outer subfields. Temporal quadrant RNFL was thinner compared with other quadrants. Monozygotic twin pairs showed the highest ICCs of RNFL thickness, although the ICC level varied across different subfields. Heritability of RNFL thickness was the highest at central subfield (0.81). RNFL thicknesses of outer subfields were moderately to highly heritable: 0.53, 0.71, 0.47 and 0.66 for superior, inferior, temporal and nasal fields, respectively. RNFL thicknesses at inner subfields showed the lowest heritability: 0.21, 0.24, 0.27 and 0.27 for superior, inferior, temporal and nasal subfields, respectively.ConclusionMacular RNFL thickness is significantly influenced by genetic factors. It varies largely by subfields with the highest heritability at the central subfield and a relatively lower heritability at inner subfields.

Download Full-text

Retinal Nerve Fibre Layer and Macular Thicknesses in Adults with Hyperopic Anisometropic Amblyopia

Journal of Ophthalmology ◽

10.1155/2015/946467 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6 ◽

Cited By ~ 6

Author(s):

Konuralp Yakar ◽

Emrah Kan ◽

Aydın Alan ◽

Mehmet Hanifi Alp ◽

Tolga Ceylan

Keyword(s):

Nerve Fibre ◽

Retinal Nerve Fibre Layer ◽

Macular Thickness ◽

Cross Sectional ◽

Anisometropic Amblyopia ◽

Fibre Layer ◽

Disc Area ◽

The Mean ◽

Nerve Fibre Layer ◽

Fellow Eyes

Objectives. This study compared the macular and retinal nerve fibre layer (RNFL) thicknesses and optic nerves of eyes with reduced vision due to anisometropia with the contralateral healthy eyes in adults using optical coherence tomography (OCT).Methods. This cross-sectional study was conducted in Atatürk State Hospital, Sinop, Turkey. Macular and RNFL thicknesses, optic nerve disc area, cup area, and horizontal and vertical cup-to-disc ratios obtained using a NIDEK RS-3000 SLO spectral domain OCT device were compared between the amblyopic and fellow eyes in 30 adults with anisometropic amblyopia 18–55 years old who were seen in our clinic with unilateral poor vision.Results. The mean macular thickness was 266.90 ± 23.22 µm in the amblyopic eyes and 263.90 ± 22.84 µm in the fellow eyes, and the mean RNFL thickness was 111.90 ± 12.9 and 109.70 ± 9.42 µm, respectively. The two thicknesses did not differ significantly between the amblyopic and fellow eyes. There were also no significant differences between the eyes in disc area, cup area, and horizontal-vertical cup/disc ratios.Conclusion. There does not seem to be a difference in macular thickness, peripapillary RNFL, or optic disc structures between the amblyopic and fellow eyes in adults.

Download Full-text

Assessment of Inner Retinal Layers and Choroidal Thickness in Type 1 Diabetes Mellitus: A Cross-Sectional Study

Journal of Clinical Medicine ◽

10.3390/jcm8091412 ◽

2019 ◽

Vol 8 (9) ◽

pp. 1412 ◽

Cited By ~ 7

Author(s):

Marc Carbonell ◽

Núria Alonso ◽

Esmeralda Castelblanco ◽

Jordi Real ◽

Anna Ramírez-Morros ◽

...

Keyword(s):

Choroidal Thickness ◽

Structural Changes ◽

Cross Sectional Study ◽

Retinal Nerve Fibre Layer ◽

Sectional Study ◽

Vascular Changes ◽

Cross Sectional ◽

Control Subjects ◽

Nerve Fibre Layer

Recent studies have shown that retinal neurodegeneration may precede visible vascular changes in diabetic retinopathy (DR). In addition, the relationship of choroidal thickness (CT) with DR stage is not well defined. To assess the inner retinal and choroidal structural changes in type 1 diabetic subjects (T1D), a cross-sectional study was conducted in 242 T1D patients and in 69 age-matched, non-diabetic individuals. The nasal retinal nerve fibre layer (RNFL) thickness was lower in T1D patients without DR (p < 0.001), with mild DR (p < 0.001), and with advanced DR (p < 0.001) compared to control subjects. The ganglion cell layer (GCL) thickness was lower in T1D patients with advanced DR compared to those with mild DR (p = 0.003) and without DR (p < 0.001) and compared to the control subjects (p < 0.001). T1D subjects with no DR and mild DR had higher CT than the control subjects, but the CT in T1D patients with advanced DR was lower (p = 0.038) than that in T1D subjects with mild DR and was not significantly different from that of the control subjects. In conclusion, T1D subjects showed a significant thinning of the nasal RNFL in the early stages of the disease, even before any vascular changes in the retina. A decrease in the GCL thickness during advanced DR stages was observed. Choroidal thickness was higher in T1D subjects without DR and in early DR stages but decreased in advanced stages.

Download Full-text