In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report

Shi, Hui; Qi, Xiao‐Feng; Liu, Taotao; Hao, Qian; Li, Xiaohong; Liang, Lan‐Chang; Wang, Yi-miao; Cui, Zhi-Hua

doi:10.1186/s12886-017-0423-5

Cited by 14 publications

(7 citation statements)

References 18 publications

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“…Careful inspection was performed in stromal images from the pre-endothelial region in all 16 subjects where full-thickness IVCM scans were available. It was observed that posterior keratocytes did not appear enlarged, nor did the microdots exhibit a clear localization to the cell nucleus or cell body (regardless of microdot grade), contrary to findings described in cases of pre-Descemet's membrane corneal dystrophy, [23][24][25] (Figure 3).…”

Section: Stromal Depth Dependence Of Central Corneal Microdotscontrasting

confidence: 74%

Microdot Accumulation in the Anterior Cornea with Aging – Quantitative Analysis with in Vivo Confocal Microscopy

Utheim

Chen

Fricke

et al. 2020

Current Eye Research

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Purpose: Degenerative 'microdot' deposits in healthy and hypoxic corneas are believed to represent lipofuscin-like material aggregation in the stroma. To accurately assess microdot deposits in a clinical setting, we sought to quantify these deposits for the first time using the non-invasive clinical imaging technique of in vivo confocal microscopy (IVCM). Methods: The corneas of 102 healthy subjects aged 15-88 years were examined by IVCM and microdot density was quantified using a 6-point grading scale by two masked, trained examiners. Microdot density was analyzed with respect to age, sex and stromal depth, and inter-eye and inter-observer differences were evaluated. Results: In healthy subjects, microdot density decreased from the anterior to posterior stroma, with the greatest accumulation observed in the most anterior stroma (subepithelial region). In this region, microdot density correlated strongly with age (P < .0001), with increased microdot deposition in older subjects (>60 years) relative to younger ones (<45 years) (P < .001). Microdot density between eyes of the same subject was highly correlated (r = 0.92, P < .0001), while no association with sex was noted (P ≥ 0.05). The mean inter-observer difference in microdot assessment was 0.62 ± 0.09 grades, with a high correlation of grading between observers (r = 0.77, P < .0001). Conclusions: IVCM can be used to non-invasively quantify microdot deposits in the subepithelial corneal stroma with good inter-observer reproducibility. Microdot assessment may provide a novel means of quantifying age-related or pathologic degeneration of the corneal stroma in a clinical setting.

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Section: Stromal Depth Dependence Of Central Corneal Microdotscontrasting

confidence: 74%

Microdot Accumulation in the Anterior Cornea with Aging – Quantitative Analysis with in Vivo Confocal Microscopy

Utheim

Chen

Fricke

et al. 2020

Current Eye Research

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“…Approximately 90% of the patients with XLI are reported to harbor complete deletion of the STS gene and its flanking sequences, and a minority of patients has partial deletions and point mutations; however, the deletion pattern of the STS gene shows no significant correlation with the severity of cutaneous manifestations . It is reported that 8% of the patients with STS gene deletion are complicated with the deletions in the neighboring genes, thereby resulting in more complicated phenotypes, such as microsomia, chondrodysplasia punctata, Kallmann syndrome, ocular albinism, epilepsy, electroencephalography abnormality, mental retardation, hyposmia, attention deficit hyperactivity disorder, autism, and language development disorder …”

Section: Discussionmentioning

confidence: 99%

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Zhang

Huang

Lin

et al. 2020

Clinical Laboratory Analysis

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Background X‐linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase (STS) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI. Methods In this study, chromosome karyotype analysis, bacterial artificial chromosomes‐on‐Beads™ (BoBs) assay, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP‐array) were employed for the prenatal diagnoses in three pregnant women with high‐risk serological screening results and a pregnant woman with mental retardation. Results STS deletion was identified at chromosome Xp22.31 in all four fetuses. Postnatal follow‐up confirmed the diagnosis of ichthyosis in two male fetuses and revealed normal dermatological manifestations in other two female fetuses carrying ichthyosis. Conclusion The results of the present study demonstrate that a combination of karyotypying, prenatal BoBs, FISH, and SNP‐array may avoid the missed detection of common microdeletions and ensure the accuracy of the detection results, which provides a feasible tool for the reliable etiological diagnosis and better genetic counseling of XLI.

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“…The hyperreflective particles scattered in the middle-posterior stroma identified with FD-OCT are consistent with those found in PDCD-affected humans [ 19 , 20 ]. Hyperreflective keratocyte intracellular/extracellular deposits increasing in density towards the posterior stroma and enlarged keratocytes are characteristic IVCM features of PDCD in humans [ 19 – 21 ]. As PDCD does not affect vision thereby not requiring surgical intervention, the pathology of this disorder is neither well-established nor clearly confirmed hereditary despite its classification as a dystrophy in humans [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Multimodal ocular imaging of known and novel corneal stromal disorders in dogs

et al. 2022

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Background Imaging features obtained with Fourier-domain optical coherence tomography (FD-OCT) and in vivo confocal microscopy (IVCM) for corneal stromal disorders have been sparsely reported in dogs. This case report is a compilation of imaging features for three cases of different stromal disorders of the canine cornea which have not yet been reported elsewhere. Case presentation Lipid deposition in case 1 appeared as needle-shaped hyperreflective lines along the collagen lamellae, which correlated histologically with lipid clefts. In case 2, glycosaminoglycan accumulation by mucopolysaccharidosis type 1 caused diffuse stromal hyperreflectivity and depletion of keratocytes on IVCM and was associated with secondary corneal degeneration presumed to be calcium deposition. In case 3, posterior corneal stromal opacities in the absence of ocular inflammation were identified. Hyperreflective particles were scattered in the middle and posterior corneal stroma on FD-OCT. With IVCM, hyperreflective deposits were identified within keratocytes and the number of enlarged keratocytes containing hyperreflective deposits increased towards the posterior stroma. The bilateral, non-inflammatory nature and unique appearance with IVCM is most consistent with a posterior stromal dystrophy reminiscent of pre-Descemet corneal dystrophy described in humans. Conclusions In vivo multimodal corneal imaging facilitated instantaneous microstructural analysis and may be valuable in the differential diagnosis of corneal stromal disorders in veterinary clinical practice. The non-specific nature of imaging findings occurs in some conditions such as mucopolysaccharidosis, thus in vivo corneal imaging should be complemented with other gold standard methods of definitive diagnosis.

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In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report

Cited by 14 publications

References 18 publications

Microdot Accumulation in the Anterior Cornea with Aging – Quantitative Analysis with in Vivo Confocal Microscopy

Microdot Accumulation in the Anterior Cornea with Aging – Quantitative Analysis with in Vivo Confocal Microscopy

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Multimodal ocular imaging of known and novel corneal stromal disorders in dogs

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