Dataset Information

Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.

ABSTRACT:

Background

Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of BBS.

Case presentation

A patient with an unclear diagnosis of syndromic type 2 diabetes mellitus, another affected sibling and unaffected siblings and parents were sequenced using DNA extracted from saliva samples. Corneal confocal microscopy (CCM) and retinal spectral domain optical coherence tomography (SD-OCT) were used to identify novel ophthalmic features in these patients. The two affected individuals had a homozygous variant in C8orf37 (p.Trp185*). SD-OCT and CCM demonstrated a marked and patchy reduction in the retinal nerve fiber layer thickness and loss of corneal nerve fibers, respectively.

Conclusion

This report highlights the use of ophthalmic imaging to identify novel retinal and corneal abnormalities that extend the phenotype of BBS in a patient with syndromic type 2 diabetes.

SUBMITTER: Belkadi A

PROVIDER: S-EPMC10666305 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature

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Publications

Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.

Belkadi Aziz A Thareja Gaurav G Khan Adnan A Stephan Nisha N Zaghlool Shaza S Halama Anna A Ahmed Ayeda Abdulsalam AA Mohamoud Yasmin A YA Malek Joel J Suhre Karsten K Malik Rayaz A RA

BMC medical genomics 20231123 1

<h4>Background</h4>Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of BBS.<h4>Case presentation</h4>A patient with an unclear diagnosis of syndromic type 2 diabetes mellitus, another affected sibling and unaffected siblings and parents were sequenced using DNA extracted ...[more]

PMID: 37996899

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Project description:ObjectiveTo investigate whether fibromyalgia induces axonal damage in the optic nerve that can be detected using optical coherence tomography (OCT), as the retinal nerve fiber layer (RNFL) is atrophied in patients with fibromyalgia compared with controls.MethodsFibromyalgia patients (n = 116) and age-matched healthy controls (n = 144) were included in this observational and prospective cohort study. All subjects underwent visual acuity measurement and structural analysis of the RNFL using two OCT devices (Cirrus and Spectralis). Fibromyalgia patients were evaluated according to Giesecke's fibromyalgia subgroups, the Fibromyalgia Impact Questionnaire (FIQ), and the European Quality of Life-5 Dimensions (EQ5D) scale. We compared the differences between fibromyalgia patients and controls, and analyzed the correlations between OCT measurements, disease duration, fibromyalgia subgroups, severity, and quality of life. The impact on quality of life in fibromyalgia subgroups and in patients with different disease severity was also analyzed.ResultsA significant decrease in the RNFL was detected in fibromyalgia patients compared with controls using the two OCT devices: Cirrus OCT ganglion cell layer analysis registered a significant decrease in the minimum thickness of the inner plexiform layer (74.99±16.63 vs 79.36±3.38 μm, respectively; p = 0.023), nasal inferior, temporal inferior and temporal superior sectors (p = 0.040; 0.011 and 0.046 respectively). The Glaucoma application of the Spectralis OCT revealed thinning in the nasal, temporal inferior and temporal superior sectors (p = 0.009, 0.006, and 0.002 respectively) of fibromyalgia patients and the Axonal application in all sectors, except the nasal superior and temporal sectors. The odds ratio (OR) to estimate the size effect of FM in RNFL thickness was 1.39. RNFL atrophy was detected in patients with FIQ scores <60 (patients in early disease stages) compared with controls in the temporal inferior sector (78.74±17.75 vs 81.65±3.61; p = 0.020) and the temporal superior sector (78.20±14.50 vs 80.74±3.88; p = 0.039) with Cirrus OCT; in the temporal inferior sector (145.85±24.32 vs 150.18±19.71; p = 0.012) and temporal superior sector (131.54±20.53 vs 138.13±16.67; p = 0.002) with the Glaucoma application of the Spectralis OCT; and in all sectors, except the average, nasal superior, and temporal sectors, and parameters with the Axonal application of the Spectralis OCT. Temporal inferior RNFL thickness was significantly reduced in patients with severe fibromyalgia (FIQ≥60) compared with patients with mild fibromyalgia (FIQ<60; 145.85±24.32 vs 138.99±18.09 μm, respectively; 145.43±13.21 vs 139.85±13.09 μm, p = 0.032 with the Glaucoma application and p = 0.021 with the Axonal application). The subgroup with biologic fibromyalgia exhibited significant thinning in the temporal inferior and superior sectors (115.17±20.82 μm and 117.05±24.19 μm, respectively) compared with the depressive (130.83±22.97 μm and 127.71±26.10 μm, respectively) and atypical (128.60±26.54 μm and 125.55±23.65 μm, respectively) subgroups (p = 0.005 and 0.001 respectively).ConclusionsFibromyalgia causes subclinical axonal damage in the RNFL that can be detected using innocuous and non-invasive OCT, even in the early disease stages. The impact on the RNFL in the temporal sectors is greater in patients with biologic fibromyalgia, suggesting the presence of neurodegenerative processes in this subgroup of patients with fibromyalgia.

Dataset Information

Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.

Background

Case presentation

Conclusion

Publications

Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.

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