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Current Opinion in Ophthalmology Nov 2023To review the neuro-ophthalmic manifestations of Ehlers-Danlos syndrome (EDS). (Review)
Review
PURPOSE OF REVIEW
To review the neuro-ophthalmic manifestations of Ehlers-Danlos syndrome (EDS).
RECENT FINDINGS
Ehlers-Danlos syndrome (EDS) is a rare genetic disorder with an estimated prevalence of 1 in 5000 individuals, but its true prevalence may be underestimated because of variable clinical presentations and limited awareness among healthcare professionals. The neuro-ophthalmic features of EDS may be difficult to recognize in context but new molecular genetic testing is now available for identification of specific subtypes of EDS.
SUMMARY
Ophthalmic manifestations of EDS include loss of vision and double vision (strabismus), high myopia, retinal detachment, and blue sclera. The vascular subtype of EDS can present as a carotid-cavernous fistula, intracranial aneurysm, or arterial dissection.
Topics: Humans; Ehlers-Danlos Syndrome
PubMed: 37729660
DOI: 10.1097/ICU.0000000000001002 -
Proceedings of the National Academy of... Aug 2023Although the visual system extends through the brain, most vision loss originates from defects in the eye. Its central element is the neural retina, which senses light,...
Although the visual system extends through the brain, most vision loss originates from defects in the eye. Its central element is the neural retina, which senses light, processes visual signals, and transmits them to the rest of the brain through the optic nerve (ON). Surrounding the retina are numerous other structures, conventionally divided into anterior and posterior segments. Here, we used high-throughput single-nucleus RNA sequencing (snRNA-seq) to classify and characterize cells in six extraretinal components of the posterior segment: ON, optic nerve head (ONH), peripheral sclera, peripapillary sclera (PPS), choroid, and retinal pigment epithelium (RPE). Defects in each of these tissues are associated with blinding diseases-for example, glaucoma (ONH and PPS), optic neuritis (ON), retinitis pigmentosa (RPE), and age-related macular degeneration (RPE and choroid). From ~151,000 single nuclei, we identified 37 transcriptomically distinct cell types, including multiple types of astrocytes, oligodendrocytes, fibroblasts, and vascular endothelial cells. Our analyses revealed a differential distribution of many cell types among distinct structures. Together with our previous analyses of the anterior segment and retina, the data presented here complete a "Version 1" cell atlas of the human eye. We used this atlas to map the expression of >180 genes associated with the risk of developing glaucoma, which is known to involve ocular tissues in both anterior and posterior segments as well as the neural retina. Similar methods can be used to investigate numerous additional ocular diseases, many of which are currently untreatable.
Topics: Humans; Transcriptome; Endothelial Cells; Optic Disk; Glaucoma; Optic Nerve; Sclera
PubMed: 37566633
DOI: 10.1073/pnas.2306153120 -
Cureus Aug 2023We report a case of minocycline-induced ocular ochronosis with scleral, retinal, and cutaneous manifestations. A 65-year-old male who had taken minocycline for four...
We report a case of minocycline-induced ocular ochronosis with scleral, retinal, and cutaneous manifestations. A 65-year-old male who had taken minocycline for four years to treat hidradenitis suppurativa, an inflammatory skin condition affecting the apocrine sweat glands and hair follicles, presented for evaluation of discoloration of bilateral sclera, nail beds, and gingiva. Ophthalmic evaluation revealed intact visual acuity, diffuse blue-gray hyperpigmentation of the sclera, more pronounced overlying insertions of the horizontal muscles, without any scleral thinning. Macular optical coherence tomography and fundus exam revealed a blue hue to the underlying choroid with dark deposits in the retinal pigment epithelium. Despite drug discontinuation, after six years the discoloration persisted. Management was directed towards patient tolerability.
PubMed: 37700983
DOI: 10.7759/cureus.43307 -
Retinal Cases & Brief Reports Jan 2024To report a case of peripapillary subretinal fluid associated with a ridge-shaped morphology surrounding the optic disk, which we termed ridge-shaped peripapilla.
PURPOSE
To report a case of peripapillary subretinal fluid associated with a ridge-shaped morphology surrounding the optic disk, which we termed ridge-shaped peripapilla.
METHODS
Case report.
RESULTS
A 6-year-old girl with mild-to-moderate myopia was referred for an abnormal fundus appearance of the left eye. Fundus examination of the left eye showed a vertical whitish elevation just temporal to the disk with pigment clumping. Spectral domain optical coherence tomography of the left eye showed an elevation of the fundus at the temporal edge of the disk with thinning of the choroid overlying the thickened scleral protrusion and a serous subretinal fluid. Fluorescein angiography of the left eye showed a hyperfluorescent area without leakage at the temporal edge of the disk, indicative of retinal pigment epithelium atrophy. There was no sign of choroidal neovascularization. Based on the fluorescein angiography and optical coherence tomography findings, the protrusion of the sclera seemed to result in overlying choroidal thinning with choroidal blood flow disturbances, and consequent retinal pigment epithelium atrophy, leading to the subretinal fluid.
CONCLUSION
This case highlights an unusual presentation of ridge-shaped peripapilla, characterized by inward convexity of the peripapillary area with a ridge-shaped morphology and localized thickening of the peripapillary sclera, in eyes with myopia.
Topics: Female; Humans; Child; Choroid; Fundus Oculi; Optic Disk; Tomography, Optical Coherence; Atrophy; Myopia; Fluorescein Angiography
PubMed: 36007179
DOI: 10.1097/ICB.0000000000001308