Retinal Schisis Research Articles

Minimal gauge vitrectomy for optic disc pit maculopathy: Our results.

The purpose of the study was to describe the surgical technique and clinical outcomes of pars plana vitrectomy without laser or gas tamponade in cases with optic disc pit maculopathy at our centre. Six eyes of six consecutive patients presenting with unilateral optic disc pit maculopathy were enrolled. Preoperative optical coherence tomography (OCT) was performed to determine the presence and extent of schisis and macular detachment. All eyes underwent 23-gauge pars plana vitrectomy with induction of posterior vitreous detachment (PVD) and internal limiting membrane (ILM) peeling and eyes were closed under fluid. Patients were followed up for at least 12 months post-surgery. Median age of patients was 22.5 years. Five of six eyes had neurosensory detachment (NSD) at the presentation; whereas, inner layer schisis was present in all patients. None of the patients had any evidence of vitreomacular or vitreopapillary adhesion or PVD either clinically or on OCT. Inner and outer retinal schisis resolved in all eyes after follow-up of at least 6 months. Resolution of subretinal fluid in eyes with NSD was seen in 4 of 5 eyes. There was a significant visual acuity improvement from mean preoperative visual acuity of 0.79 logarithm of the minimum angle of resolution (logMAR) units to 0.36 logMAR units at 12 months (P = 0.001). Thus, vitrectomy with ILM peeling and PVD induction alone could achieve good functional outcomes in cases with optic disc pit maculopathy.

X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY

To describe the phenotypic variability in a consanguineous family with genetically confirmed X-linked retinoschisis. Five patients, including one homozygous female, were characterized by clinical examination, optical coherence tomography, fundus autofluorescence, mapping of macular pigment optical density, electroretinography, and DNA testing. The 36-year-old male index patient showed a ring of enhanced autofluorescence and outer retinal atrophy on optical coherence tomography. Electroretinography testing revealed a reduced a/b ratio. His mother presented with a central atrophic retina with markedly reduced autofluorescence signal and a surrounding ring of enhanced autofluorescence. The 40-year-old brother of the index patient and his 2 sons showed characteristic signs for X-linked retinoschisis, including retinal schisis and a reduced a/b ratio. Genetic testing revealed a c.293C>A mutation in the RS1 gene in all affected family members while the mother of the index patient was homozygous for this mutation. X-linked retinoschisis can present with a wide phenotypic variability. Here, detailed family history and genetic testing established the diagnosis of X-linked retinoschisis despite striking differences in phenotypic presentation in affected subjects, homozygosity of one affected female, and seemingly dominant inheritance in three subsequent generations because of multiple consanguinity.

Tug of war

A 74-year-old man had reproducible superior and inferior arcuate visual field defects in the left eye only that were initially believed to be caused by primary open-angle glaucoma. Diagnostic evaluation with the aid of optical coherence tomography revealed extrafoveal vitreomacular traction (VMT) with secondary retinal thickening and schisis. We discuss the evaluation of non-glaucomatous visual field defects and review the literature on the pathogenesis, clinical manifestations, and treatment of VMT syndrome.

R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.

To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma. Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced. The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes, involving the macula and combined with foveal cystic change, reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure (IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W (c.304C>T) mutations in the affected male, and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism (c.576C>CT). We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.

Insights in ROP

Background and PurposeRetinopathy of prematurity (ROP) is a complex disease. We have established much of the pathophysiology of this disease including the critical roles of retinal metabolic demand and vascular endothelial growth factor (VEGF). The purpose of this paper is to provide some background material and specifically highlight issues that are new, controversial, or underappreciated.MethodsROP is subdivided into classification, incidence, screening, treatment, and co-morbidities. A brief background is given for each followed by highlighting specific problems attendant with current practices.ResultsDisease classification is accurate, reliable, and extremely useful, and can be consistently applied. However, disease behavior can occasionally confound the classification system, such as Zone III ROP with previous Zone II disease as well as the temporal wedge seen in posterior ROP. Incidences of various ROP states are well known and consistent, but the true incidence of Zone I disease and plus disease are currently debatable. Screening guidelines are currently consensus products and, as such, may contain inaccuracies and have a lack of transparency to their recommendations. Treatment of ROP now involves intravitreal injections of anti-VEGF agents, primarily bevacizumab based on economic factors. However, it may not be the best agent when systemic safety is considered. The co-morbidities of retinal schisis and its impact on disease staging, and the poor prognosis associated with vitreous hemorrhage are notable.ConclusionsROP has yielded up many of its secrets and clinician management continues to improve. However, our knowledge continues to evolve and more refinements are necessary.

Disputes revolved about surgeries of macular vitreoretinal interface abnormalities in highly myopic eyes

Macular vitreoretinal interface abnormalities in highly myopic eyes are among the most vision-threatening diseases associated with macular retinal schisis and macular holes.To relieve the traction of the posterior vitreous cortex and to recover the anatomy of fovea for good central vision are the keys to successful repair.However,there are many controversial issues in the efficacy of the surgerical procedures including gas injection,scleral buckling and vitrectomy.How to evaluate these different surgeries and to establish standard surgical procedure options for macular vitreoretinal interface abnormalities in highly myopic eyes needs to be explored. Key words: Myopia, degenerative/surgery; Myopia, degenerative/complications; Retinal disease/surgery ; Editorial

Membrane tissue on the optic disc may cause macular schisis associated with a glaucomatous optic disc without optic disc pits

This article reports a case of possible involvement of membrane tissue on the optic disc with macular schisis formation associated with glaucomatous optic disc without optic disc pits. A 78-year-old man presented with loss of central visual acuity of the left eye. He had a medical history of primary open-angle glaucoma. Visual acuity was 0.6 in his left eye, and funduscopy revealed macular schisis and a glaucomatous optic disc without optic disc pits. Optical coherence tomography (OCT) revealed membrane tissue on the optic disc and a tunnel-like hyporeflective lesion connecting the schisis cavity and a site near the tissue, but no obvious optic disc pit. He underwent pars plana vitrectomy during which the membrane tissue on the disc and internal limiting membrane were removed. Posterior vitreous detachment was observed intraoperatively. Thereafter, the tunnel-like lesion observed on OCT was rapidly obscured and the macular schisis gradually reduced. Eighteen months after surgery, his visual acuity had improved to 0.9 with almost complete regression of the macular schisis. No optic disc pit was visualized after surgery. The changes in OCT findings described here suggest an etiology for macular schisis without optic disc pits in an eye with a glaucomatous optic disc with posterior vitreous detachment. A connection between the schisis cavity and the vitreous cavity may have appeared via the tunnel-like structure due to the membrane tissue exerting traction on the optic disc.

MACULAR VITREORETINAL INTERFACE ABNORMALITIES IN HIGHLY MYOPIC EYES WITH POSTERIOR STAPHYLOMA

To review prevalence, long-term progression, and prognosis of vitreoretinal interface modifications in pathologic myopia with posterior staphyloma and investigate foveal sensitivity and fixation stability. Retrospective single-institution series of 214 eyes (116 patients) with pathologic myopia, axial length >30 mm, and posterior staphyloma. Exclusion criteria included follow-up less than five years, incomplete records, and/or less than three optical coherence tomography or microperimetry. Patients were divided into 5 groups according to optical coherence tomography: 1) epiretinal membrane without schisis (ERM); 2) macular retinal schisis (Schisis); 3) partial thickness macular hole (PTMH); 4) full-thickness macular hole (FTMH); and 5) posterior retinal detachment (PRD) with or without macular hole. Disease progression was defined as a visual acuity decrease of two or more lines associated to objective worsening of the optical coherence tomography and/or microperimetry. Vitreoretinal abnormalities at baseline were present in 116 of 204 patients (56.8%) and 214 of 408 eyes (52.4%); 98 of 116 patients (84.4%) showed bilateral involvement. Baseline visual acuity and foveal sensitivity varied significantly with ERM performing better and PRD worse than others; PTMH and FTMH did not differ. During the 66 months of average follow-up, 33 of 214 eyes (15.4%) required surgery and 13 of 33 eyes (39.3%) needed reintervention. Surgery rate significantly differed among groups: 2% for ERM, 20% to 25% for Schisis, PTMH, and FTMH, and up to 50% for PRD. Progression rate of Schisis and FTMH was the same, regardless of symptoms, while macula-off PRD always required surgery. Decrease of fixation stability and foveal sensitivity correlated to need for surgery, while baseline foveal sensitivity and fixation did not. Vitreoretinal interface pathology in pathologic myopia with posterior staphyloma encompasses a spectrum of conditions whose baseline functionality, prognosis, rate, and amount of progression vary significantly. Customized treatment for each different condition should be considered.

Long-term Outcomes of Vitrectomy for Progressive X-Linked Retinoschisis

To evaluate the long-term outcomes of vitrectomy for progressive X-linked retinoschisis. Prospective, nonrandomized, consecutive, interventional case series. Twenty-eight eyes of 22 patients who were diagnosed with progressive X-linked retinoschisis were divided into 2 groups: a nonsurgical group (n = 11) and a vitrectomy group (n = 17). The main outcome measures included best-corrected visual acuity, the area of the macular schisis cavity measured by optical coherence tomography, the retinal anatomic status, and complications. The mean follow-up period was 34.7 months (range, 10 to 68 months). The mean best-corrected visual acuity increased from 20/125 at baseline to 20/55 at the final follow-up in the vitrectomy group (P = .001), but decreased from 20/100 at baseline to 20/400 at the final follow-up in the nonsurgical group (P = .000). In the vitrectomy group, the macular schisis cavity resolved in all 17 eyes; the mean area of the macular schisis cavity decreased from 0.85 mm(2) at baseline to 0.23 mm(2) at the final follow-up (P = .000), and the retinas of 16 eyes (94%) were attached after surgery. In the nonsurgical group, retinal schisis progressively extended in 9 eyes (82%); the mean area of the macular schisis cavity increased from 0.82 mm(2) at baseline to 1.21 mm(2) at the final follow-up (P = .000); in 8 eyes (72%), retinal detachment developed, and 2 eyes (18%) experienced vitreous hemorrhage, which terminated the observations. Vitrectomy may be an effective and essential treatment for patients with progressive X-linked retinoschisis to prevent a deterioration of vision before severe complications developed in their eyes.

Ability of Fourier domain OCT to evaluate macula in retinitis pigmentosa patients

Abstract Purpose To evaluate the ability of Fourier domain optical coherence tomography (OCT) detecting changes in macular structure and thickness in patients diagnosed of Retinitis Pigmentosa (RP). Methods Thirty‐two eyes of 16 patients with RP and 30 eyes of 30 healthy subjects underwent a complete ophthalmic examination with best corrected visual acuity, 512x128 macular volume cube protocol using Cirrus HD‐OCT (Carl Zeiss Meditec, Inc., USA) and Spectralis OCT (Heidelberg Engineering, Germany). Macular changes as retinal schisis, macular hole (MH), epiretinal membrane (EM), retinal pigment epithelial detachment (PED) or macular drusen, were registered. Comparisons between RP and healthy eyes were done for the nine macular areas defined by the Early Treatment Diabetic Retinopathy Study (ETDRS). Results All macular thickness parameters showed a statistically significant decrease in the RP patients (p<0.05, t test). The greater difference with control eyes was observed in the nasal inner ETDRS area (247.54 vs 328.99 µm with Cirrus OCT and 259.65 vs 351.74 µm using Spectralis OCT). Retinal abnormalities found in RP eyes were: 16% retinal schisis, 3.3% MH, 6.6% EM and 3.3% PED. Conclusion Retinal atrophy and structural alterations can be detected in RP patients using Fourier domain OCT.

Infrared and fundus autofluorescence imaging in eyes with optic disc pit maculopathy

To characterize the infrared (IR) and fundus autofluorescence (FAF) images of eyes with optic disc pit maculopathy. A retrospective non-comparative study of three patients with optic disc pit maculopathy who were followed by optical coherence tomography (OCT) and retinal angiography (Heidelberg retina angiograph 2) before and after vitreous surgery without laser photocoagulation. The areas of serous retinal detachment and inner retinal schisis were dark in the IR and FAF images preoperatively; and they changed to brighter areas following reattachment of the retina. There was an increase in the granular hyperfluorescence in the FAF images accompanied by an increase in the number of subretinal precipitates. OCT showed a thickening of the photoreceptor outer segments. The outer retinal layer defect initially appeared bright in the IR images and hypofluorescent or hyperfluorescent in the FAF images. The outer retinal layer defect became larger with a reduction of the outer retinal schisis and increased retinal detachment, but then became smaller with the resolution of the retinal detachment. All cases had a resolution or reduction of the retinal detachment and retinal schisis after the vitrectomy. The IR and FAF images in eyes with optic disc pit maculopathy reflect the changes in the inner and outer retinal layers corresponding with the stage of recovery of the disease.

A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk Drusen

To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen. Observational case report. Three affected subjects and one healthy sibling from a consanguineous marriage from Spain were studied. Complete ophthalmologic examinations including A- and B-mode ultrasonography (US), electroretinography (ERG), fluorescein retinal angiography (FA), and optical coherence tomography (OCT) were performed in each individual. Genetic analysis included polymerase chain reaction amplification and direct nucleotide sequencing of the complete MFRP gene. All three affected siblings had bilateral shortening of the posterior ocular segment associated with high hyperopia and normal anterior segment dimensions. Best-corrected visual acuity ranged from 20/200 to 20/60. Funduscopy, ERG, and FA were compatible with retinitis pigmentosa, and B-mode ultrasound showed optic disk drusen. OCT analysis revealed outer retinal layer schisis with absence of foveal pit. Inheritance of this syndrome followed an autosomal recessive pattern. Molecular analysis revealed a novel homozygous 1-bp deletion (c.498delC) in exon 5 of MFRP, predicting a prematurely truncated protein (P166fsX190). A healthy sister demonstrated to be a carrier of the mutation. We confirmed that the syndrome of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen constitutes a distinct autosomal recessive entity. The novel frameshift mutation identified in the family described here validates MFRP as the gene responsible for this particular disease, which characteristically involves structures located at the posterior segment of the eye.

Unusual Coexistence of Bilateral Keratoconus and Optic Disc Pit: A Case Report

To report the unknown coexistence of bilateral optic disc pit and keratoconus. A 23-year-old man with bilateral keratoconus underwent complete ophthalmology screening, with an unexpected detection of undiagnosed optic disc pit in both eyes. Computerized corneal topography (CT), Orbscan, corneal pachometry, endothelial microscopy, and optical coherence tomography (OCT) examination were performed. The corneal CT showed a keratoconus pattern in both eyes, evolved in the right eye with a minimum corneal pachometry of 336 micronm in the right eye and 405 micronm in the left eye. Mean endothelial cell density was 1937 cells/mm2 in the right eye and 1912 cells/mm2 in the left eye. The OCT scans showed the presence of the disc pit in both eyes with a normal macular thickness and profile in the right eye, and in the left eye an augmented retinal thickness in the nasal macular zone due to retinal oedema and schisis, with an initial detachment of the neuroepithelium in the parapapillary area starting from the optic pit. This is the first clinical report of bilateral optic disc pit and keratoconus. Further investigations will be necessary to assess if there is a possible pathogenetic correlation between these two ocular pathologies or if this is an unusual coexistence of separate entities.

Peripapillary Schisis in Glaucoma Patients With Narrow Angles and Increased Intraocular Pressure

To describe two cases of peripapillary retinal schisis in patients with glaucoma without evidence of optic nerve pits, pseudopits, or X-linked retinoschisis. Two observational case reports and literature review. Imaging of the peripapillary nerve fiber layer and schisis cavities was completed in two patients, and one patient was followed over time. The first patient, diagnosed with narrow angle glaucoma, was noted to have peripapillary schisis in the right eye with matching changes on visual field and optical coherence tomographic (OCT) results. Follow-up examination revealed that the schisis disappeared in the right eye while appearing in the left. The findings were verified with high-speed ultra-high-resolution OCT performed in both eyes. The second case involved a patient with anatomically narrow angles, high intraocular pressure (IOP), and peripapillary schisis extending into the macula. Peripapillary retinoschisis may represent a unique sequelae of intraocular fluctuations in patients with uncontrolled glaucoma. Further studies are needed to better understand this disease process.

X-LINKED RETINOSCHISIS IN THREE FEMALES FROM THE SAME FAMILY: A PHENOTYPE–GENOTYPE CORRELATION

To describe the clinical findings and outcome for three homozygous females affected with X-linked retinoschisis (XLRS) in a large Colombian family with 26 affected males. Retrospective review of charts for females from a family with XLRS who underwent complete ophthalmologic examinations, ancillary tests, clinical genetic evaluation, and molecular studies. Three female patients (6 eyes) with clinical findings of XLRS were identified. The patients' ages ranged from 10 to 37 years. Initial visual acuity was equal to or worse than 20/50 in 4 eyes (66%) of 2 patients. Four eyes (66%) were hyperopic. Intraocular pressure was normal in all eyes. Three eyes (50%) had cataracts, and vitreous veils were present in 3 (50%). The optic disk was pale in 6 eyes (100%). Foveal schisis was present in 6 eyes (100%). Peripheral retinal schisis was present in five eyes. A silvery gloss or tapetal-like retinal reflex or sheen was observed in 6 eyes (100%), and dendritic lines were found in 2 (33%). One eye had a retinal break, and one had a retinal detachment. Two eyes underwent cataract extraction; one patient underwent bilateral cryotherapy, one, laser treatment, and one, scleral buckling. Final visual acuity was 20/50 to 20/100 in 2 eyes and 20/200 to 20/400 in 4. Follow-up ranged from 7 to 22 years. Molecular analysis showed that all three female patients were homozygous for the allele 639delG of (on) the XRLS1 gene. Compared with their affected male relatives, three females from a family with XLRS had similar ocular findings and a more severe course of disease. These findings are explained by the fact that these patients were homozygous for a mutation in the XLRS1 gene.

Clear lens extraction in high axial myopia

Several ophthalmologists, during these past 20 years, supported by the great improvement in the surgical techniques of cataract extraction, proposed again the surgical procedure of clear lens extraction (CLE) to correct high axial myopia. However, we have to remember that vitreous and retinal changes in high myopic eyes can lead to retinal detachment (RD), in some cases with a poor visual outcome even after successful surgery. Moreover, it is well known that cataract extraction is a major cause of later RD with a further significant increase of the incidence of RD after Nd:YAG laser capsulotomy. The increased risk rates of RD for high myopia and cataract extraction are probably to be additive; therefore, high myopic eyes are significantly more exposed to postoperative complications. The greater incidence of RD in these eyes can be explained considering the anomalous vitreous changes occurring in high myopia, precipitated by the molecular and structural changes of the vitreous following cataract surgery. There are anomalous vitreo-retinal separation that are most frequently observed in very high myopic eyes: anomalous posterior vitreous detachment (PVD) and posterior vitreous schisis (PVS), the latter generally observed in association with a prominent posterior stafiloma. Intraoperative observations and recent studies of the macular area by means of optical coherence tomography (OCT) allowed the detection in these eyes of a thin layer of epiretinal tissue strictly adherent to the retina involved by the staphyloma; in these cases tractional retinal detachment, macular schisis or holes can occur. There are only few reports on the vitreo-retinal complications of CLE; for this reason, most conclusions have been derived from studies on RD occurred after cataract extraction in high myopic eyes. These data suggest that the risk/benefit ratio for this operation is probably too high to be recommended.

The role of inner wall retinectomy in the management of juvenile retinoschisis.

The purpose of this paper is to describe the technique and application of relief of vitreous traction and inner wall retinectomy in the management of juvenile retinoschisis (JRS). In addition, during the course of this study a previously undescribed form of tractional retinal detachment associated with retinal schisis was observed. Six eyes of four children with visual field and/or central vision loss underwent vitrectomy (in five of the six eyes the lenses were preserved), inner wall retinectomy and photocoagulation for rhegmatogenous/schisis retinal detachment, tractional retinal detachment and reduced central vision secondary to intraschisis hemorrhage overhanging the macula. The children were followed up for 1 to 4 years. All eyes showed anatomic reattachment. Three of the four eyes that could be tested for vision showed improved visual function postoperatively. One eye showed marked enlargement of visual field and central visual acuity improvement from 20/200 preoperatively to 20/50 postoperatively. Inner wall retinectomy can be a useful ajunct in the management of the retinal complication of JRS. Appropriate case selection of eyes with associated central traction retinal detachment can result in improved visual field and central visual acuity. The success of this technique suggests that the mechanical and/or pharmacological relief of vitreous traction may be able to alter the clinical course of JRS.

Schisis contributes to necrosis in experimental HSV-1 retinitis

Injection of the KOS strain of herpes simplex virus type 1 into the anterior chamber of one eye of a BALB c mouse produces bilateral retinal inflammation which progresses in the contralateral eye to total retinal necrosis by day 10 post-inoculation. Although both immune and direct viral cytopathic effects have been proposed as causes of the initial infiltration, the precise mechanism(s) of the contralateral retinal necrosis remains uncertain. In this study, histopathological examination of the uninoculated eyes of HSV-1 injected BALB c mice revealed the presence of vitreous traction against the internal limiting membrane of the retina which was associated with separation of the nerve fiber layer from the underlying ganglion cell layer. This separation resulted in avulsion of Mueller cell footplates and retinal vessels, hemorrhage into the schisis cavity and disruption of the underlying retinal architecture. The schisis began focally on day 8 or 9 post-inoculation, and the entire retina of most animals was involved by day 10 or 11. These results suggest that retinal schisis involving separation of the nerve fiber layer from the ganglion cell layer contributes to necrosis of the retina in the uninoculated contralateral eye.

Retinal detachment and pathology following experimental embolization of choroidal and retinal circulation.

By means of a micro-surgical technique, the central retinal artery of the owl monkey (Aotus trivirgatus) was embolized with spheric plastic beads (7-25 mu in diameter). Beads (4-15 mu) were also injected into choroidal capillaries through a supero-temporal vortex vein. Choroidal ischemia induced proliferation or degerneration of the pigment epithelium, frequently accompanied by photoreceptor degeneration and circumscribed retinal detachment. Occlusion of retinal vessels resulted in posterior vitreous detachment and micro-cystoid degeneration in inner retinal layers, followed by retinal schisis. In combined retinal and choroidal ischemia long-lasting retinal detachments regularly developed.

Pathology of Hereditary Juvenile Retinoschisis

The clinicopathologic data are presented in one familial case and in two other cases of juvenile retinoschisis in which the family history was not available. The principal feature in all three cases is a large retinal schisis cavity, the anterior wall of which has become a retrolental membrane that is responsible for the clinical picture of leukokoria. The schisis is seen histologically as a splitting within the nerve fiber layer. It appears impossible to state whether the changes found in the pigment epithelium of the posterior pole are secondary to the changes in the sensory retina.