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Journal of Clinical Medicine May 2023X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to...
X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS ( = 4), and patients referred to a clinic for inherited retinal diseases ( = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies.
PubMed: 37297924
DOI: 10.3390/jcm12113729 -
Journal of Ophthalmology 2015Macular peeling refers to the surgical technique for the removal of preretinal tissue or the internal limiting membrane (ILM) in the macula for several retinal... (Review)
Review
Macular peeling refers to the surgical technique for the removal of preretinal tissue or the internal limiting membrane (ILM) in the macula for several retinal disorders, ranging from epiretinal membranes (primary or secondary to diabetic retinopathy, retinal detachment…) to full-thickness macular holes, macular edema, foveal retinoschisis, and others. The technique has evolved in the last two decades, and the different instrumentations and adjuncts have progressively advanced turning into a safer, easier, and more useful tool for the vitreoretinal surgeon. Here, we describe the main milestones of macular peeling, drawing attention to its associated complications.
PubMed: 26425351
DOI: 10.1155/2015/467814 -
Ophthalmology Feb 2022To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).
PURPOSE
To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).
DESIGN
Retrospective cohort study.
PARTICIPANTS
Three hundred forty patients with XLRS from 178 presumably unrelated families.
METHODS
This multicenter, retrospective cohort study reviewed medical records of patients with XLRS for medical history, symptoms, visual acuity (VA), ophthalmoscopy, full-field electroretinography, and retinal imaging (fundus photography, spectral-domain [SD] OCT, fundus autofluorescence).
MAIN OUTCOME MEASURES
Age at onset, age at diagnosis, severity of visual impairment, annual visual decline, and electroretinography and imaging findings.
RESULTS
Three hundred forty patients were included with a mean follow-up time of 13.2 years (range, 0.1-50.1 years). The median ages to reach mild visual impairment and low vision were 12 and 25 years, respectively. Severe visual impairment and blindness were observed predominantly in patients older than 40 years, with a predicted prevalence of 35% and 25%, respectively, at 60 years of age. The VA increased slightly during the first 2 decades of life and subsequently transitioned into an average annual decline of 0.44% (P < 0.001). No significant difference was found in decline of VA between variants that were predicted to be severe and mild (P = 0.239). The integrity of the ellipsoid zone (EZ) as well as the photoreceptor outer segment (PROS) length in the fovea on SD OCT correlated significantly with VA (Spearman's ρ = -0.759 [P < 0.001] and -0.592 [P = 0.012], respectively). Fifty-three different RS1 variants were found. The most common variants were the founder variant c.214G→A (p.(Glu72Lys)) (101 patients [38.7%]) and a deletion of exon 3 (38 patients [14.6%]).
CONCLUSIONS
Large variabilities in phenotype and natural course of XLRS were seen in this study. In most patients, XLRS showed a slow deterioration starting in the second decade of life, suggesting an optimal window of opportunity for treatment within the first 3 decades of life. The integrity of EZ as well as the PROS length on SD OCT may be important in choosing optimal candidates for treatment and as potential structural end points in future therapeutic studies. No clear genotype-phenotype correlation was found.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Blindness; Child; Child, Preschool; Electroretinography; Eye Proteins; Female; Follow-Up Studies; Genetic Association Studies; Humans; Infant; Male; Middle Aged; Ophthalmoscopy; Optical Imaging; Retina; Retinal Photoreceptor Cell Outer Segment; Retinoschisis; Retrospective Studies; Tomography, Optical Coherence; Vision, Low; Visual Acuity
PubMed: 34624300
DOI: 10.1016/j.ophtha.2021.09.021 -
Developments in Ophthalmology 2014While age-related macular degeneration (AMD) is a leading cause of central vision loss among the elderly, many inherited diseases that present earlier in life share... (Review)
Review
While age-related macular degeneration (AMD) is a leading cause of central vision loss among the elderly, many inherited diseases that present earlier in life share features of AMD. These diseases of juvenile-onset macular degeneration include Stargardt disease, Best disease, retinitis pigmentosa, X-linked retinoschisis, and other allied disorders. In particular, they can be accompanied by the appearance of drusen, geographic atrophy, macular hyperpigmentation, choroidal neovascularization, and disciform scarring just as in AMD, and often may be confused for the adult form of the disease. Diagnosis based on funduscopic findings alone can be challenging. However, the use of diagnostic studies such as electroretinography, electrooculography, optical coherence tomography, and fundus autofluorescence in conjunction with genetic testing can lead to an accurate diagnosis.
Topics: Age of Onset; Blindness; Electroretinography; Global Health; Humans; Incidence; Macular Degeneration; Tomography, Optical Coherence
PubMed: 24732760
DOI: 10.1159/000357293 -
Journal of Current Ophthalmology Sep 2019To evaluate the multimodal imaging including optical coherence tomography angiography (OCTA) findings in patients with posterior microphthalmos (PM).
PURPOSE
To evaluate the multimodal imaging including optical coherence tomography angiography (OCTA) findings in patients with posterior microphthalmos (PM).
METHODS
In an observational case series, four eyes of two patients, eight and twenty-three years old, with clinical proven PM underwent complete ophthalmic examination, including refraction, fluorescein angiography, optical coherence tomography (OCT), OCTA, B-scan ultrasonography, axial length measurement using IOL Master optical measuring, and Pentacam evaluation.
RESULTS
Both patients were high hyperopic with partial thickness retinal fold in macula, retinoschisis, and foveal hypoplasia. Axial length was less than 17 mm with scleral thickening in all eyes. OCTA showed absence of foveal avascular zone (FAZ) in both superficial and deep capillary plexuses. Pentacam showed corneal steepness, shallow anterior chamber, and low anterior chamber volume.
CONCLUSION
OCTA findings showed absence of avascular zone in both superficial and deep capillary plexuses, while OCT shows partial thickness retinal fold and retinoschisis.
PubMed: 31528771
DOI: 10.1016/j.joco.2019.01.001 -
Eye (London, England) May 2015To review the literature on epidemiology, clinical features, diagnostic imaging, natural history, management, therapeutic approaches, and prognosis of myopic... (Review)
Review
To review the literature on epidemiology, clinical features, diagnostic imaging, natural history, management, therapeutic approaches, and prognosis of myopic foveoschisis. A systematic Pubmed search was conducted using search terms: myopia, myopic, staphyloma, foveoschisis, and myopic foveoschisis. The evidence base for each section was organised and reviewed. Where possible an authors' interpretation or conclusion is provided for each section. The term myopic foveoschisis was first coined in 1999. It is associated with posterior staphyloma in high myopia, and is often asymptomatic initially but progresses slowly, leading to loss of central vision from foveal detachment or macular hole formation. Optical coherence tomography is used to diagnose the splitting of the neural retina into a thicker inner layer and a thinner outer layer, but compound variants of the splits have been identified. Vitrectomy with an internal limiting membrane peel and gas tamponade is the preferred approach for eyes with vision decline. There has been a surge of new information on myopic foveoschisis. Advances in optical coherence tomography will continually improve our understanding of the pathogenesis of retinal splitting, and the mechanisms that lead to macular damage and visual loss. Currently, there is a good level of consensus that surgical intervention should be considered when there is progressive visual decline from myopic foveoschisis.
Topics: Diagnostic Techniques, Ophthalmological; Endotamponade; Epiretinal Membrane; Humans; Myopia, Degenerative; Prognosis; Retinoschisis; Vitrectomy
PubMed: 25744445
DOI: 10.1038/eye.2014.311 -
The British Journal of Ophthalmology Nov 1966
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Indian Journal of Ophthalmology Jan 2020
Topics: Adult; Eye Proteins; Humans; Male; Retina; Retinoschisis; Tomography, Optical Coherence
PubMed: 31856528
DOI: 10.4103/ijo.IJO_1521_19 -
Indian Journal of Ophthalmology Dec 2021To present a selected case series of advanced glaucoma-associated peripapillary and macular retinoschisis and response to various treatment strategies with a...
PURPOSE
To present a selected case series of advanced glaucoma-associated peripapillary and macular retinoschisis and response to various treatment strategies with a comprehensive literature review.
METHODS
Retrospective observational case series. Retrospective review of five selected cases of advanced glaucoma with peripapillary and macular retinoschisis.
RESULTS
All five patients had advanced glaucomatous damage with macular and peripapillary retinoschisis, three (patients 2, 3, and 5) had a neurosensory detachment of the macula. Increased intraocular pressure was managed with maximal antiglaucoma medications and G6 micropulse diode laser treatment in the first patient, transscleral diode laser in the second patient, mitomycin-C augmented trabeculectomy in the third patient, maximal antiglaucoma medications alone in the fourth patient, pars plana vitrectomy followed by trabeculectomy in the fifth patient.
CONCLUSION
We speculate that peripapillary and macular retinoschisis may indicate a vision-threatening sequelae of advanced glaucoma. The probable inciting factor for this vision-threatening pathology being elevated intraocular pressure, fluctuations in intraocular pressure, and chronic glaucoma with advanced cupping. We emphasize that meticulous examination of the macula in patients with advanced glaucoma is mandatory. It is imperative to do OCT macula in patients with advanced glaucoma to diagnose this distinct entity at an earlier stage and preserve the existing visual potential.
Topics: Antiglaucoma Agents; Glaucoma; Humans; Intraocular Pressure; Retinoschisis; Retrospective Studies; Tomography, Optical Coherence
PubMed: 34826994
DOI: 10.4103/ijo.IJO_668_21 -
Retinal Cases & Brief Reports Nov 2023To present two cases of concomitant retinal neovascularization (RNV) in acquired peripheral retinoschisis and analyze its characteristics on optical coherence tomography... (Review)
Review
PURPOSE
To present two cases of concomitant retinal neovascularization (RNV) in acquired peripheral retinoschisis and analyze its characteristics on optical coherence tomography angiography and based on a literature review.
METHODS
This was an observational, retrospective case study.
RESULTS
Case 1 presented with bullous retinoschisis and RNV near the schisis cavity. Optical coherence tomography angiography revealed no angioflow into the retinal arterioles of the cavity. An arterial filling delay to the retinoschisis with extensive leakage from the RNV was noted on fluorescein angiography. Case 2 involved the superficial retinoschisis and telangiectatic vessels inside the schisis cavity. Optical coherence tomography angiography revealed damage to the superficial capillary plexus of the cavity, absence of angioflow to the inner schisis layer, and increased angioflow to the RNV. Fluorescein angiography showed focal leakage from the RNV and diffuse leakage from telangiectasia. No vision-threatening complications were identified in either patient up to the last follow-up, subsequent to laser photocoagulation.
CONCLUSION
Acquired peripheral retinoschisis is associated with RNV. Inner retinal ischemia caused by hemodynamic resistance or a damaged superficial capillary plexus can interrupt angioflow to the inner schisis retinal layer on optical coherence tomography angiographic findings and develop RNV inside or outside the retinoschisis.
Topics: Humans; Retinoschisis; Retinal Neovascularization; Tomography, Optical Coherence; Retrospective Studies; Retinal Diseases; Fluorescein Angiography; Ischemia
PubMed: 35594561
DOI: 10.1097/ICB.0000000000001292