Cases reported "retinoschisis"

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1/28. Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis.

    PURPOSE: To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis.DESIGN: Observational case reports.methods: The exons, including the flanking introns of XLRS1, were amplified by polymerase chain reaction and analyzed by direct sequencing.RESULTS: One novel splice donor site mutation (IVS2 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found.CONCLUSIONS: Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis. ( info)

2/28. 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. ( info)

3/28. 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. ( info)

4/28. vitrectomy with internal limiting membrane peeling for macular retinoschisis and retinal detachment without macular hole in highly myopic eyes.

    PURPOSE: To report anatomic and visual improvement following vitrectomy with internal limiting membrane (ILM) peeling for two highly myopic patients with retinoschisis and/or retinal detachment without a macular hole. DESIGN: Two interventional case reports. methods: Two highly myopic patients who had retinoschisis and/or retinal detachment without a full-thickness macular hole underwent vitrectomy, internal limiting membrane peeling, and long-acting gas injection. Main outcome measures included best-corrected visual acuity, biomicroscopic appearance, and optical coherent tomography finding. RESULTS: vitrectomy with ILM peeling results in biomicroscopic, functional, and tomographic improvement in both patients, for follow-up periods of 12 months and 8 months, respectively.CONCLUSIONS: vitrectomy with ILM peeling and gas tamponade is an effective method for retinoschisis and/or retinal detachment without a macular hole in highly myopic patients. ( info)

5/28. Congenital retinoschisis: successful collapse with photocoagulation.

    We report a case of progressive congenital retinoschis is where the schisis cavity collapsed following argon laser photocoagulation. Despite reports to the contrary, we feel that in the absence of significant vitreous or inner layer traction, photocoagulation applied as light burns in the schisis cavity may be beneficial in collapsing the cavity. Whether or not this collapse of the schisis cavity reduces the risk of rhegmatogenous retinal detachment is unclear. ( info)

6/28. 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. ( info)

7/28. Vitreal pathogenic role in optic pit foveolar retinoschisis and central serous retinopathy.

    PURPOSE: To expand on current theories concerning the vitreal-induced mechanism underlying the development of foveolar retinoschisis and macular sensory detachments associated with optic nerve head pits. To propose the notion that vitreal traction may contribute to the pathogenesis of serous detachments in central serous chorioretinopathy (CSC). REPORTS: We describe two patients, one with macular retinoschisis and the other with central serous detachment. The first patient, a 45-year-old Hispanic female, presented with a temporally located optic nerve head pit, foveolar retinoschisis and schisis retinal spaces extending to the surrounding macula and to the disc. The second patient, a 43-year-old Haitian male, developed a central serous retinal detachment OS with decreased visual acuity one day following in-office administration of Apraclonidine (0.5 per cent Iopidine, Alcon) and Dorzolamide-timolol Maleate (Cosopt, Merck) to lower elevated intraocular pressure (IOP). Macular retinal pigment mottling and epiretinal membrane sheen OU had been observed on his initial visit. visual acuity improved within a three-day period with resolution of the serous detachment. CONCLUSION: We suggest that the persistence of Cloquet's canal may permit fluid leakage into the proximal vitreous in cases of congenital optic nerve head pits. Tangential vitreal traction may promote the opening of a fistula at the optic pit and additionally thrust vitreal fluid into the pit and retinal space inducing the formation of schisis spaces, foveolar-schisis and underlying sensory serous detachment. We question whether a reduction in vitreous volume, induced by initial administration of anti-glaucoma medications, may contribute to the development and/or recurrence of central serous choroidopathy in predisposed individuals. ( info)

8/28. Optical coherence tomography findings in familial foveal retinoschisis.

    PURPOSE: To report the optical coherence tomography findings of a 5-year-old boy with familial foveal retinoschisis. DESIGN: Observational case report. methods: Optical coherence tomography findings in familial foveal retinoschisis was evaluated. RESULTS: Optical coherence tomography findings demonstrated a wide hyporeflective space that split the neurosensory retina into a thin faintly reflective outer layer and a thicker more reflective inner retinal layer. Anteroposterior or oblique linear columns were seen across this hyporeflective space and formed a bridge between the outer and inner retinal layers. Cleavage planes were outer plexiform layer and adjacent nuclear layers. CONCLUSION: Optical coherence tomography findings in familial foveal retinoschisis in early childhood may help us to understand the early stages of pathology. ( info)

9/28. telangiectasis as a cause of intra-schitic haemorrhage in optic disc pit maculopathy.

    PURPOSE: To present a patient with the novel finding of vascular telangiectasis as a cause of intra-schitic haemorrhage, occurring in optic disc pit-associated maculopathy. methods: A clinical history was detailed. Clinical examination included visual acuity assessment and slit-lamp microscopy. fluorescein angiography was performed. RESULTS: A temporal optic disc pit, macular retinoschisis and a circumscribed detachment of the outer retinal layer and inner leaf holes were noted. A retinal haemorrhage extending into the schitic cavity was present, along with an associated vitreous haemorrhage. fluorescein angiography showed telangiectatic vessels in association with the haemorrhage. CONCLUSION: This is the first reported case of vascular telangiectasis as a cause of intra-schitic haemorrhage occurring in optic disc pit-associated maculopathy. ( info)

10/28. Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis.

    PURPOSE: To present the clinical features of two brothers with molecularly confirmed X-linked juvenile retinoschisis (xlRS) but with non-characteristic electrophysiological findings. methods: Comprehensive ophthalmological examinations were performed. The electroretinograms (ERGs) were recorded under ISCEV standards, and ERGs elicited by long-duration stimuli were also evaluated. Standard genetic analysis of peripheral blood leukocytes was performed. RESULTS: Molecular testing revealed a novel 473-bp deletion including exon 4 in the XLRS1 gene in both siblings. This resulted in a frameshift mutation and a premature termination at codon 78. The scotopic and photopic ERGs were reduced, but the "negative-type" ERG, characteristic of xlRS, was not observed. Flicker ERGs were also highly reduced. Long-duration stimuli elicited ERGs with a complete loss of the b-wave and a preservation of the off-response, i.e., negative-type ERG. The phenotype/genotype relationship was not determined. CONCLUSION: The consistency of the ERGs elicited by long-duration stimuli in xlRS patients suggests that this type of stimuli provides responses that are a better indicator for the progression or stage of the disease. ( info)
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