Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis
Purpose. To report a rare case of spontaneous vitreous and intraretinal hemorrhage in a patient with juvenile X-linked retinoschisis which was managed conservatively. Methods. Single patient case report. Introduction. Juvenile X-linked retinoschisis (JXLR) most often occurs as a result of a genetic...
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Wiley
2020-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2020/6638553 |
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| author | Sidra Ibad Carl S. Wilkins Alexander Pinhas Vincent Sun Matthew S. Wieder Avnish Deobhakta |
| author_facet | Sidra Ibad Carl S. Wilkins Alexander Pinhas Vincent Sun Matthew S. Wieder Avnish Deobhakta |
| author_sort | Sidra Ibad |
| collection | DOAJ |
| description | Purpose. To report a rare case of spontaneous vitreous and intraretinal hemorrhage in a patient with juvenile X-linked retinoschisis which was managed conservatively. Methods. Single patient case report. Introduction. Juvenile X-linked retinoschisis (JXLR) most often occurs as a result of a genetic defect in the retinoschisin (RS1) gene, causing a separation between the ganglion cell layer and the nerve fiber layer. Spontaneous vitreous hemorrhage has been reported as an uncommon secondary consequence of JXLR. We present a case of spontaneous vitreous and diffuse macular intraretinal hemorrhages in a patient with JXLR which resolved with medical management alone. Results. A 23-year-old man with a history of juvenile X-linked retinoschisis presented to the ophthalmic emergency room complaining of acute onset of floaters in his right eye. On examination, the patient was found to have a new vitreous hemorrhage with diffuse intraretinal hemorrhages in his right eye, without new retinal tears or detachment. SD-OCT demonstrated multifocal pockets of subretinal fluid. The genetic testing panel revealed a hemizygous mutation in the RS-1 gene. He was managed conservatively on oral acetazolamide, with the resolution of the subretinal fluid and with both visual and symptomatic improvement. Conclusions. Spontaneous vitreous hemorrhage may rarely occur in patients with JXLR, even in the absence of acute retinal tear or detachment. This case demonstrates an atypical presentation of vitreous hemorrhage with diffuse intraretinal hemorrhage and new multifocal areas of subretinal fluid which improved without surgical intervention. Good outcomes may be achieved in these patients with conservative management alone, even in atypical presentations. |
| format | Article |
| id | doaj-art-d7a1b17a5d4a428ca2a30daebd1be5c7 |
| institution | DOAJ |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-d7a1b17a5d4a428ca2a30daebd1be5c72025-08-20T03:19:49ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302020-01-01202010.1155/2020/66385536638553Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked RetinoschisisSidra Ibad0Carl S. Wilkins1Alexander Pinhas2Vincent Sun3Matthew S. Wieder4Avnish Deobhakta5Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USANew York Eye and Ear Infirmary of Mount Sinai, 310 East 14th Street, Retina Center, New York, NY, USANew York Eye and Ear Infirmary of Mount Sinai, 310 East 14th Street, Retina Center, New York, NY, USANew York Eye and Ear Infirmary of Mount Sinai, 310 East 14th Street, Retina Center, New York, NY, USANew York Eye and Ear Infirmary of Mount Sinai, 310 East 14th Street, Retina Center, New York, NY, USAIcahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USAPurpose. To report a rare case of spontaneous vitreous and intraretinal hemorrhage in a patient with juvenile X-linked retinoschisis which was managed conservatively. Methods. Single patient case report. Introduction. Juvenile X-linked retinoschisis (JXLR) most often occurs as a result of a genetic defect in the retinoschisin (RS1) gene, causing a separation between the ganglion cell layer and the nerve fiber layer. Spontaneous vitreous hemorrhage has been reported as an uncommon secondary consequence of JXLR. We present a case of spontaneous vitreous and diffuse macular intraretinal hemorrhages in a patient with JXLR which resolved with medical management alone. Results. A 23-year-old man with a history of juvenile X-linked retinoschisis presented to the ophthalmic emergency room complaining of acute onset of floaters in his right eye. On examination, the patient was found to have a new vitreous hemorrhage with diffuse intraretinal hemorrhages in his right eye, without new retinal tears or detachment. SD-OCT demonstrated multifocal pockets of subretinal fluid. The genetic testing panel revealed a hemizygous mutation in the RS-1 gene. He was managed conservatively on oral acetazolamide, with the resolution of the subretinal fluid and with both visual and symptomatic improvement. Conclusions. Spontaneous vitreous hemorrhage may rarely occur in patients with JXLR, even in the absence of acute retinal tear or detachment. This case demonstrates an atypical presentation of vitreous hemorrhage with diffuse intraretinal hemorrhage and new multifocal areas of subretinal fluid which improved without surgical intervention. Good outcomes may be achieved in these patients with conservative management alone, even in atypical presentations.http://dx.doi.org/10.1155/2020/6638553 |
| spellingShingle | Sidra Ibad Carl S. Wilkins Alexander Pinhas Vincent Sun Matthew S. Wieder Avnish Deobhakta Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis Case Reports in Ophthalmological Medicine |
| title | Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis |
| title_full | Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis |
| title_fullStr | Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis |
| title_full_unstemmed | Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis |
| title_short | Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis |
| title_sort | acute vitreous and intraretinal hemorrhage with multifocal subretinal fluid in juvenile x linked retinoschisis |
| url | http://dx.doi.org/10.1155/2020/6638553 |
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