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Investigative Ophthalmology & Visual... Aug 2022To evaluate spatial and temporal integration across the visual field in individuals with juvenile X-linked retinoschisis (XLRS).
PURPOSE
To evaluate spatial and temporal integration across the visual field in individuals with juvenile X-linked retinoschisis (XLRS).
METHODS
Nine subjects with XLRS and 10 visually normal individuals participated. Luminance thresholds were measured at 15 locations along the horizontal visual field meridian. Locations were grouped into four regions for analysis: foveal, parafoveal (2°), perifoveal (5°-10°), and peripheral (10°-60°). For spatial integration measurements, stimulus duration was 100 ms, and size ranged from 0.01 to 2.32 deg2 (Goldmann I-V). For temporal integration measurements, stimulus size was 0.15 deg2 (Goldmann III), and duration ranged from 12 to 800 ms. The effect of stimulus size and duration on the subjects' threshold was described using integration models.
RESULTS
Luminance thresholds for the XLRS group were more elevated for small targets (2.0×-12.6×) than for large targets (1.25×-3.2×) compared to controls for all locations. Likewise, thresholds for the XLRS group were more elevated for short durations (6.3×) than for long durations (4.0×) in the fovea and parafovea but were similarly elevated at all durations (2.0×-2.5×) in the perifovea and periphery. For both the size and duration experiments, thresholds measured in the fovea, parafovea, and perifovea of XLRS subjects were highly similar to those measured from the peripheral field of the controls.
CONCLUSIONS
Spatial and temporal integration characteristics of the XLRS fovea, parafovea, and perifovea are similar to those of the normal periphery. The results also indicate that scaling stimulus size equates thresholds for the XLRS and control subjects throughout the visual field, but scaling duration does not.
Topics: Fovea Centralis; Humans; Retinoschisis; Visual Fields
PubMed: 35984651
DOI: 10.1167/iovs.63.9.22 -
Translational Vision Science &... Jun 2022The purpose of this study was to investigate the clinical characteristics of paravascular abnormalities (PVAs) and retinoschisis, and their associations with choroidal...
PURPOSE
The purpose of this study was to investigate the clinical characteristics of paravascular abnormalities (PVAs) and retinoschisis, and their associations with choroidal thickness (ChT) in young highly myopic (HM) adults.
METHODS
A total number of 645 eyes were included. Paravascular microfolds (PMs), paravascular cystoid spaces (PCs), paravascular lamellar holes (PLHs), and retinoschisis were detected using swept-source optical coherence tomography. Their associations with macular ChT and risk factors were analyzed.
RESULTS
PMs, PCs, and PLHs were detected in 203 (31.5%), 141 (21.9%), and 30 (4.7%) eyes, respectively. Retinoschisis was found in 50 (7.8%) eyes, 43 (86.0%) of which were located around the retinal vessels surrounding the optic disc. A decreasing trend of macular ChT (P < 0.001) was observed in the eyes with PMs only, with both PCs and PMs, and with PLHs, PCs, and PMs. After adjustments for age, sex, and axial length (AL), the presence of PCs, PLHs, or retinoschisis around the optic disc was negatively associated with macular ChT (all P < 0.05). Eyes with longer AL, incomplete posterior vitreous detachment (PVD), and myopic atrophic maculopathy (MAM) were more likely to have PCs (all P < 0.01) and retinoschisis around the optic disc (all P < 0.05).
CONCLUSIONS
PVAs were observed in approximately one third of the young HM adults in this study. The presence of PCs, PLHs, or retinoschisis around the optic disc was associated with thinner macular ChT. Eyes with longer AL, incomplete PVD, and MAM may be at risk of developing PVAs and retinoschisis around the optic disc.
TRANSLATIONAL RELEVANCE
PCs, PLHs, and retinoschisis around the optic disc could serve as early indicators for myopia progression.
Topics: Adult; Choroid; Humans; Myopia, Degenerative; Retinal Vessels; Retinoschisis; Tomography, Optical Coherence; Vitreous Detachment
PubMed: 35727187
DOI: 10.1167/tvst.11.6.18 -
Experimental Eye Research Jan 2023PITX2 and FOXC1 are the most common pathogenic genes associated with Axenfeld-Rieger syndrome (ARS). In this study, we aimed to explore the variation spectrum of PITX2... (Review)
Review
PITX2 and FOXC1 are the most common pathogenic genes associated with Axenfeld-Rieger syndrome (ARS). In this study, we aimed to explore the variation spectrum of PITX2 and FOXC1 and their associated phenotype based on data from our study and previously reported literatures. Whole exome sequencing was performed on eight probands in our study. Multistep bioinformatic and co-segregation analyses were performed to detect pathogenic variants. Genotype-phenotype correlations of PITX2 and FOXC1 and the differences between them were determined. We detected three variants of FOXC1 and two variants of PITX2 in five unrelated families with ARS. Macular retinoschisis had been observed in AR1 with variant in PITX2 and it is not reported before. Additionally, a review of published literature and our study led to the identification of 593 families with variants of PITX2 or FOXC1, including 316 families with heterozygous variants in FOXC1, 251 families with heterozygous variants in PITX2, 13 families with variants in double genes, seven families with homozygous or compound heterozygous variants in FOXC1, and six families with variants in ADAMTS17, PRDM5, COL4A1 or CYP1B1. Significant differences were observed between the prevalence of missense and in-frame, truncation, and large deletion variants in PITX2 (32.00%, 42.67%, and 25.33%, respectively) and FOXC1 (34.49%, 35.13%, 30.38%, respectively) (p = 1.16E-43). Enrichment and frequency analyses revealed that missense variants were concentrated in the forkhead domain of FOXC1 (76.14%) and homeodomain of PITX2 (87.50%). The percentage of Caucasians with variants in FOXC1 was significantly higher than that of PITX2 (p = 2.00E-2). Significant differences between PITX2 and FOXC1 were observed in glaucoma (p = 3.00E-2), corectopia (p = 3.050E-6), and polycoria (p = 5.21E-08). Additionally, we observed a significant difference in best-corrected visual acuity (BCVA) between FOXC1 and PITX2 (p = 3.80E-2). Among all the family members with PITX2 or FOXC1 variants, the prevalence of systemic abnormalities was significantly higher in PITX2 than in FOXC1 (89.16% vs. 58.77%, p = 5.44E-17). In conclusion, macular retinoschisis as a novel phenotype had been observed in patient with variant in PITX2. Significant differences were detected in phenotypes and genotypes between PITX2 and FOXC1.
Topics: Humans; Anterior Eye Segment; Eye Abnormalities; Eye Diseases, Hereditary; Forkhead Transcription Factors; Genetic Association Studies; Homeodomain Proteins; Mutation; Pedigree; Retinoschisis; Homeobox Protein PITX2
PubMed: 36442680
DOI: 10.1016/j.exer.2022.109307 -
Journal of Ophthalmology 2016Purpose. To investigate peripapillary retinoschisis and its effect on retinal nerve fiber layer (RNFL) thickness measurements by using spectral-domain optical coherence...
Purpose. To investigate peripapillary retinoschisis and its effect on retinal nerve fiber layer (RNFL) thickness measurements by using spectral-domain optical coherence tomography (SD-OCT) in glaucomatous eyes. Methods. Circumpapillary RNFL (cpRNFL) B-scan images of 940 glaucoma patients (Group 1) and 801 glaucoma-suspect patients (Group 2) obtained by SD-OCT were reviewed. The structural and clinical characteristics of the retinoschisis were investigated. The RNFL thickness measurements taken at the time of retinoschisis diagnosis and at the follow-up visits were also compared. Results. Twenty-nine retinoschisis areas were found in 26 of the 940 glaucoma patients (3.1%) in Group 1 and seven areas were found in 801 patients (0.87%) in Group 2. In glaucomatous eyes, the retinoschisis was attached to the optic disc and overlapped with the RNFL defect. At the time of retinoschisis, the RNFL thickness was statistically greater in the inferior temporal quadrant when compared with the follow-up scans (p < 0.001). No macular involvement or retinal detachment was observed. Conclusion. The present study investigated 33 peripapillary retinoschisis patients. Increase in RNFL thickness measurements was observed at the time of retinoschisis. It is important to examine the cpRNFL B-scan images of glaucoma patients so that the RNFL thickness is not overestimated.
PubMed: 27069674
DOI: 10.1155/2016/1612720 -
American Journal of Ophthalmology Case... Jun 2022To determine whether the Mizuo-Nakamura phenomenon, which is an important diagnostic sign of Oguchi's disease, also occurs in patients with genetically proven X-linked...
PURPOSE
To determine whether the Mizuo-Nakamura phenomenon, which is an important diagnostic sign of Oguchi's disease, also occurs in patients with genetically proven X-linked retinoschisis (XLRS).
METHODS
We examined three patients with a clinical and genetic diagnosis of XLRS and one patient who was clinically diagnosed with Oguchi's disease, with an emphasis on the Mizuo-Nakamura phenomenon. We obtained color fundus photographs, especially in the fully dark-adapted state, using the non-mydriatic mode on a digital retinal camera and infrared observation monitor to avoid the bleaching effects caused by the viewing light, which alters the fundus color in a short time.
RESULTS
The Mizuo-Nakamura phenomenon was observed in all patients with molecularly proven XLRS, similar to that in the patient with Oguchi's disease. The sets of photographs were obtained in the light- and dark-adapted states using our newly devised techniques needed to witness the Mizuo-Nakamura phenomenon.
CONCLUSIONS AND IMPORTANCE
The Mizuo-Nakamura phenomenon was identified in three patients with genetically proven XLRS. To the best of our knowledge, this study provided the first genetic evidence of the Mizuo-Nakamura phenomenon in a patient with molecularly proven XLRS without the causative genetic abnormalities for Oguchi's disease. Our findings suggest that XLRS is responsible for the Mizuo-Nakamura phenomenon and its presence in XLRS is not a rare exception but may be a consistent manifestation of XLRS.
PubMed: 35479517
DOI: 10.1016/j.ajoc.2022.101529 -
International Journal of Retina and... 2019Retinoschisis and retinal detachment are distinguished based on features in clinical examination. Even to skilled examiners, some cases may be diagnostic challenges.... (Review)
Review
BACKGROUND
Retinoschisis and retinal detachment are distinguished based on features in clinical examination. Even to skilled examiners, some cases may be diagnostic challenges. Infrared and wide-angle infrared reflectance imaging are relatively new modalities that can provide additional diagnostic information. Non-contact infrared reflectance imaging (also described as near-infrared imaging) highlights sub-retinal features which may otherwise be obscured by standard retinal photography. It is non-invasive and uses the retina's ability to absorb, reflect or scatter infrared light to produce high quality images.
MAIN BODY
The aim of this review is to describe the role of wide-field infrared imaging in screening, diagnosing, and monitoring structural peripheral retinal disorders including retinoschisis, retinal detachment or combined retinoschisis rhegmatogenous detachments. Infrared imaging can also be used to monitor anterior segment inflammation. Heidelberg Wide-Field Module lens and Heidelberg Spectralis HRA + OCT machine (Heidelberg Engineering, Heidelberg, Germany) were used to obtain noncontact, wide-field infrared images on each study eye. Pseudocolor photos were captured by Optos Optomap (Optos, Inc, Massachusetts, USA).
CONCLUSION
Wide angle infrared imaging offers a quick, noncontact, and noninvasive way to help specialists accurately diagnose, monitor for progression, and educate patients about retinal detachment, retinoschisis and even anterior segment inflammation.
PubMed: 31890288
DOI: 10.1186/s40942-019-0188-5 -
American Journal of Ophthalmology Case... Mar 2022To report a case of preretinal hemorrhage from extraretinal neovascularization related to capillary non-perfused retina within a large schisis in a pediatric patient...
PURPOSE
To report a case of preretinal hemorrhage from extraretinal neovascularization related to capillary non-perfused retina within a large schisis in a pediatric patient with X-linked retinoschisis (XLRS).
OBSERVATIONS
A 4-year old male with an mutation and XLRS presented with preretinal and vitreous hemorrhage in the right eye. Retinal imaging, including wide angle fluorescein angiography (FA) and optical coherence tomography (OCT), showed vitreoretinal traction on extraretinal neovascularization and capillary non-perfused retina in the schisis cavity. Laser treatment to the non-perfused retina within the schisis was successful in reducing extraretinal neovascularization.
CONCLUSIONS
Vitreous hemorrhage is a well-known occurrence in XLRS. Imaging using wide angle FA and OCT were helpful to determine the causes of hemorrhage in order to develop a management plan.
PubMed: 35198819
DOI: 10.1016/j.ajoc.2022.101395 -
BMC Ophthalmology Mar 2023To investigate the clinical characteristics of retinal honeycomb appearance in a large cohort of patients with X-linked retinoschisis (XLRS) and to determine whether it...
BACKGROUND
To investigate the clinical characteristics of retinal honeycomb appearance in a large cohort of patients with X-linked retinoschisis (XLRS) and to determine whether it is associated with complications like retinal detachment (RD) and vitreous hemorrhage (VH).
METHODS
A retrospective observational case series. A chart review of medical records, wide-field fundus imaging, and optical coherence tomography (OCT) was performed on 78 patients (153 eyes) diagnosed with XLRS at Beijing Tongren eye center between Dec 2017 and Feb 2022. The chi-square test or Fisher exact test was performed on the 2 × 2 cross-tabulations of honeycomb appearance and other peripheral retinal findings and complications.
RESULTS
Thirty-eight patients (48.7%), and 60 eyes (39.2%) had a honeycomb appearance of different areas on the fundus. The supratemporal quadrant was the most commonly affected (45 eyes, 75.0%), followed by the infratemporal (23 eyes, 38.3%), the infranasal (10 eyes,16.7%), and supranasal (9 eyes,15.0%). The appearance was significantly associated with peripheral retinoschisis, inner retinal layer break, outer retinal layer break, RD, and rhegmatogenous retinal detachment (RRD) (p < 0.01, p = 0.032, p < 0.01, p = 0.008, p < 0.01, respectively). All the eyes complicated with RRD had the appearance. None of the eyes without the appearance had RRD.
CONCLUSIONS
The data suggest that the honeycomb appearance is not uncommon in patients with XLRS and is more likely to be accompanied by an RRD, and inner and outer layer breaks, thus should be treated with caution and close observation.
Topics: Humans; Retinoschisis; Retinal Detachment; Retrospective Studies; Retina; Fundus Oculi; Retinal Perforations
PubMed: 36879218
DOI: 10.1186/s12886-023-02835-2 -
Acta Ophthalmologica Mar 2023To investigate the clinical characteristics, internal correlations and risk factors for different locations of retinoschisis (RS) in an elderly high myopia (HM)...
PURPOSE
To investigate the clinical characteristics, internal correlations and risk factors for different locations of retinoschisis (RS) in an elderly high myopia (HM) population.
METHODS
A total of 448 eyes (304 participants) were analysed and classified into no retinoschisis (no-RS), paravascular retinoschisis (PVRS), peripapillary retinoschisis (PPRS) and macular retinoschisis (MRS) groups. Each participant underwent comprehensive ophthalmic examinations, and posterior scleral height (PSH) was measured in swept-source optical coherence tomography images. PSH, vitreoretinal interface abnormities and myopic atrophy maculopathy (MAM) were compared among groups.
RESULTS
Retinoschisis was found in 195 (43.5%) eyes, among which 170 (37.9%) had PVRS, 123 (27.5%) had PPRS, and 103 (23.0%) had MRS. MRS was found to be combined with PVRS in 96 of 103 (93.2%) eyes. MAM was one of the risk factors for RS (odds ratio [OR], 2.459; p = 0.005). Higher nasal PSH was the only risk factor for PVRS (OR, 9.103; p = 0.008 per 1-mm increase). Elongation of axial length (AL) (OR, 1.891; p < 0.001 per 1-mm increase), higher PSH in nasal (OR, 5.059; p = 0.009 per 1-mm increase) and temporal (OR, 13.021; p = 0.012 per 1-mm increase), epiretinal membrane (ERM; OR, 2.841; p = 0.008) and vitreomacular traction (VMT; OR, 7.335; p = 0.002) were risk factors for MRS.
CONCLUSIONS
Paravascular retinoschisis is the most common type of RS in HM and MRS is mostly combined with PVRS. MAM is one of the risk factors for RS. In addition to longer AL and higher PSH, the presence of VMT and ERM also play an important role in the formation of MRS.
Topics: Humans; Aged; Myopia; Retina; Retinoschisis; Epiretinal Membrane; Macular Degeneration; Risk Factors; Tomography, Optical Coherence; Myopia, Degenerative; Retrospective Studies
PubMed: 36004558
DOI: 10.1111/aos.15234 -
Ophthalmic Genetics Oct 2020Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical...
BACKGROUND
Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS.
MATERIALS AND METHODS
Physical and complete ophthalmic examination, molecular diagnosis.
RESULTS
Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and heart block. At age 21 he was incidentally found to have retinoschisis on optical coherence tomography that remained stable over three years follow-up. Sequencing of the gene revealed no pathogenic variants, effectively ruling out co-existing X-linked retinoschisis.
CONCLUSIONS
These findings suggest retinoschisis may be a rare manifestation of KSS. A trial of a carbonic anhydrase inhibitor was frustrated by coexisting corneal edema associated with the condition.
Topics: Adult; Humans; Kearns-Sayre Syndrome; Male; Prognosis; Retinoschisis; Tomography, Optical Coherence; Young Adult
PubMed: 32787478
DOI: 10.1080/13816810.2020.1799416