1/11. Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene.PURPOSE: To present ocular findings in three family members with X-linked juvenile retinoschisis (XLRS) associated with a novel Pro192Thr mutation.CASES: We examined 21- (Case 1), 17- (Case 2), and 10-year-old (Case 3) male patients who showed wheel-like cystic lesions in the macula and a silver-gray reflex in the peripheral retina. Case 2 was a cousin of Case 1. Case 3 was a brother of Case 2.methods: Scotopic electroretinogram (ERG) (dim and bright flash), oscillatory potentials, photopic ERG, and 30-Hz flicker responses were recorded in each patient. The XLRS1 gene was analyzed in patient blood samples by a direct sequencing method.RESULTS: A novel missense mutation (Pro192Thr) was identified in the XLRS1 gene in each patient. Variable b/a ratios upon scotopic bright flash stimulation were evident (Case 1: right 1.16, left 1.20; Case 2: right 0.98, left 1.01; Case 3: right 0.81, left 0.83). Only Case 3 showed the typical "negative" waveform. The amplitude of rod b-waves was significantly decreased in all patients.CONCLUSIONS: Three cases with a novel Pro192Thr mutation showed the phenotypic variation in ERG, especially in b/a ratio, which has been considered an important diagnostic parameter.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
2/11. Peripheral retinoschisis and exudative retinal detachment in pars planitis.PURPOSE: To review and describe bullous retinoschisis and exudative retinal detachment in patients with pars planitis. methods: Retrospective, multicenter study of patients with pars planitis who presented with retinoschisis and exudative retinal detachments. RESULTS: The authors describe 13 eyes of 9 patients with pars planitis who presented with inferior peripheral retinoschisis and/or exudative retinal detachment. Four patients were male; five were female. patients' ages ranged from 8 years to 35 years (median, 12 years). The follow-up interval ranged from 1 month to 10 years (median, 4 years). These peripheral retinal elevations had a tendency to remain stable, although those with telangiectatic vessels or vasoproliferative tumors occasionally demonstrated an increase in accumulation of exudate. Treatment of such eyes with cryotherapy, or low-dose plaque radiotherapy, resulted in vasoproliferative tumor and telangiectatic vessel regression, absorption of the hard exudate, and resolution of the retinal elevation in four of five eyes. One patient had spontaneous regression of the retinoschisis cavity over a 4-year period. CONCLUSION: patients with pars planitis may present with bullous retinoschisis and/or exudative retinal detachment. These findings may be related to a Coats disease-like vascular response (telangiectatic vessels and vasoproliferative tumors) secondary to chronic inflammation. Treatment of the vascular leakage tended to result in resolution of the detachment and/or schisis.- - - - - - - - - - ranking = 1486.8277041341keywords = planitis, par (Clic here for more details about this article) |
3/11. retinal detachment 7 years after prophylactic schisis cavity excision in juvenile X-linked retinoschisis.A 7-year-old boy with X-linked juvenile retinoschisis developed a retinal detachment at the site of previous prophylactic excision of a schisis cavity. The patient underwent a scleral buckle procedure, pars plana vitrectomy, membrane peel, and silicone oil injection with successful reattachment. At last follow-up, the visual acuity was 20/400 and the retina was attached. Prophylactic excision of a schisis cavity may be complicated by retinal detachment several years after the surgery. Given the favorable natural history of schisis cavities in X-linked juvenile retinoschisis, the decision to perform prophylactic excision should be undertaken cautiously after full consideration of the potential complications.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
4/11. Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis.PURPOSE: To describe the value of optical coherence tomography (OCT) as a diagnostic tool in the diagnosis of X-linked retinoschisis. methods: We report three boys aged between 8 and 17 years, diagnosed with X-linked retinoschisis. During investigations they were examined with OCT (Zeiss Humphrey OCT 1, upgraded version). Single scans of the central posterior pole and the region around the vascular arcades were obtained. Two of the boys underwent full-field ERG according to ISCEV standards. Genetic analysis was performed in all three boys, with sequencing of the XLRS gene. RESULTS: The OCT results revealed a pattern with a cleavage of the retina in two distinct planes, one deep (outer retina) and one superficial. This was very obvious in one patient and a similar but not as pronounced pattern was seen in the other two cases. The two layers were superficially connected with thin-walled, vertical palisades, separated by low reflective, cystoid spaces, confluent and most prominent in the foveal region. CONCLUSION: Full-field ERG and/or dna analysis are well known methods used for diagnosis of X-linked juvenile retinoschisis. In this paper, we suggest that OCT can also be a helpful diagnostic tool.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
5/11. Posterior vitreous detachment and macular hole formation in myopic foveoschisis.PURPOSE: To report two cases of macular hole (MH) associated with myopic foveoschisis (MF). DESIGN: Interventional case report. methods: Two women presented with metamorphopsia. Preoperative optical coherence tomography (OCT) showed an MH and MF. We performed vitrectomy, internal limiting membrane (ILM) peeling and gas tamponade. RESULTS: Preoperative OCT examination and intraoperative microscopic observation revealed partial posterior vitreous detachment (PVD) at the posterior retina and vitreous strands adhering to the edge of the MHs. The MF resolved in both patients, but the MHs remained open postoperatively. CONCLUSIONS: Although the contribution of tangential traction cannot be excluded, the mechanism of MH formation in eyes with MF may be anteroposterior traction via abnormal vitreofoveal adhesion resulting from partial PVD.- - - - - - - - - - ranking = 2keywords = par (Clic here for more details about this article) |
6/11. STRATUS optical coherence tomography in unilateral colobomatous excavation of the optic disc and secondary retinoschisis.PURPOSE: To report the STRATUS optical coherence tomography (STRATUSOCT) findings in a patient with unilateral coloboma-like excavation of the optic disc without pit but secondary retinoschisis, as well as to discuss the possible involved pathophysiologic mechanisms. methods: Observational case report. STRATUSOCT findings in a 66-year-old woman with a coloboma-like excavation of the optic disc without pit but secondary retinoschisis encompassing the macular region, along with evidence of a mild epiretinal membrane superonasal to the disc were evaluated. RESULTS: STRATUSOCT showed signs of a connection between the perineural space and the inner retinal layers on the temporal optic disc border, as well as schisis-like changes extending from the disc to the macula, with cystoid degeneration and two lamellar holes in their nasal portion. CONCLUSION: The use of third generation OCT afforded an enhanced visualization of retinal structures, revealing signs of fluid at several distinct levels, as well as deep and superficial inner breaks apart from the schisis cavity. We are unaware of such previous reports, and could find no reference to them in a computerized search using medline. In addition, our study supports a common pathomechanism for the development of macular complications in optic pits and colobomas.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
7/11. Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis.PURPOSE: To characterize electroretinogram (ERG) and molecular genetic findings in a family with XLRS1 mutation. The authors present two cases of a Portuguese family with juvenile retinoschisis with a mutation in exon 6. methods: Two brothers and their parents, grandmother, and uncle underwent a full ophthalmic examination. The two brothers with ophthalmic disease were evaluated with color fundus photography, fluorescein angiography, optical coherence tomography (OCT), molecular genetic study (Group VI of retinoschisis Consortium), pattern visual evoked potential (PVEP), and full field ERG. RESULTS: Both patients presented funduscopic manifestations of vitre o retinal degeneration. They presented peripheral schisis and retinal detachment. However, foveal schisis had never been observed at funduscopy. A negative ERG was recorded in both. Six months after that, the younger brother showed a typical foveal schisis at fundus examination. A retinoschisis gene (XLRS1) mutation with transition of cytosine by thymine at position 608 (608C > T) had been identified in both. CONCLUSIONS: Negative ERG is the most secure clinical marker to establish the diagnosis of juvenile retinoschisis. XLRS1 gene 608C > T mutation was described for the first time in a Portuguese family.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
8/11. Multilayered retinoschisis associated with optic disc pit.BACKGROUND: Recently, optical coherence tomography (OCT) analysis has contributed greatly to the detection of posterior retinoschisis associated with optic disc pits. We report an unusual case of optic disc pit maculopathy. CASE: A 37-year-old woman with a multilayered structure of posterior retinoschisis associated with a very small, shallow optic disc pit was treated. OBSERVATIONS: The patient came to our clinic after a few weeks of decreased vision in her right eye. Fundus examination showed a shallow macular detachment with a tiny, shallow pit at the temporal edge of the optic disc. OCT revealed an unusual multilayered structure of retinoschisis connected to the optic disc. We performed vitrectomy with induction of the posterior hyaloid separation and gas tamponade. After vitrectomy, OCT showed a marked fluid resolution in the retinoschisis, and the patient's vision improved rapidly. CONCLUSION: The multilayered separation of retinoschisis can be caused by traction of the optic disc with a tiny, shallow pit at the temporal edge of the disc.- - - - - - - - - - ranking = 2keywords = par (Clic here for more details about this article) |
9/11. vitrectomy for myopic posterior retinoschisis or foveal detachment.PURPOSE: To evaluate the efficacy of vitrectomy for posterior retinoschisis (RS) or foveal detachment (FD) associated with posterior staphyloma in myopic eyes. methods: We reviewed the records of 14 consecutive patients (53-77 years of age; 16 eyes) with progressive visual impairment as a result of myopic RS or FD. Optical coherence tomography demonstrated the presence of a variety of RS and FD characteristics. Five eyes had RS alone, and 11 eyes had RS and FD. Two eyes with RS and severe FD developed retinal detachment in conjunction with a tiny macular hole. vitrectomy, including posterior vitreous separation in all eyes and internal limiting membrane (ILM) peeling in six eyes, had been performed. The patients were followed postoperatively for 6 to 66 months (mean, 24 months). The anatomical outcome and visual acuity were retrospectively analyzed in this study. RESULTS: Although the two eyes with RS and severe FD developed retinal detachment with a macular hole after an initial vitrectomy, final retinal reattachment was achieved in all 16 eyes. visual acuity improved in nine eyes and remained unchanged in seven eyes. CONCLUSIONS: vitrectomy with posterior vitreous separation is effective for reattaching the macula and preventing a deterioration of vision, although eyes with RS and severe FD may be at risk for the development of a macular hole after the initial vitrectomy.- - - - - - - - - - ranking = 2keywords = par (Clic here for more details about this article) |
10/11. reoperation for persistent myopic foveoschisis after primary vitrectomy.PURPOSE: We performed vitrectomy on two eyes for persistent myopic foveoschisis (MF) after primary surgery that did not include internal limiting membrane (ILM) peeling. DESIGN: Interventional case reports. methods: Two highly myopic eyes of two patients with persistent MF after primary vitrectomy and gas tamponade but without ILM peeling were treated with pars plana vitrectomy, residual vitreous cortex removal, ILM peeling, and long-term gas tamponade. RESULTS: Total foveal reattachment was achieved and best-corrected visual acuity (BCVA) improved in both eyes. CONCLUSIONS: reoperation including complete vitreous cortex removal and ILM peeling could be beneficial for patients with persistent MF after primary surgery, indicating that vitreous cortex removal and ILM peeling are critical in treating MF.- - - - - - - - - - ranking = 1keywords = par (Clic here for more details about this article) |
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