Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane
Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented...
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Wiley
2016-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2016/2312196 |
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| author | José L. Sánchez-Vicente Miguel Contreras-Díaz Trinidad Rueda Enrique Rodríguez de la Rúa-Franch Fredy E. Molina-Socola Cristina Vital-Berral Asunción Alfaro-Juárez Fernando López-Herrero Ana Muñoz-Morales |
| author_facet | José L. Sánchez-Vicente Miguel Contreras-Díaz Trinidad Rueda Enrique Rodríguez de la Rúa-Franch Fredy E. Molina-Socola Cristina Vital-Berral Asunción Alfaro-Juárez Fernando López-Herrero Ana Muñoz-Morales |
| author_sort | José L. Sánchez-Vicente |
| collection | DOAJ |
| description | Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS. Results. The patient was observed for 39 months, showing spontaneous resolution of the traction caused by the EM and improvement in visual acuity (VA), which was 20/80 at initial presentation, rising to 20/40 after follow-up period. Conclusions. The presence of EM in CHR-REP is a cause of reduction of visual acuity. Management of this condition is controversial; however, we would like to highlight that spontaneous resolution of the traction caused by EM is possible, resulting in recovery of VA. |
| format | Article |
| id | doaj-art-f0d72066776944609a17fcbe60a56976 |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-f0d72066776944609a17fcbe60a569762025-02-03T05:48:22ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302016-01-01201610.1155/2016/23121962312196Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal MembraneJosé L. Sánchez-Vicente0Miguel Contreras-Díaz1Trinidad Rueda2Enrique Rodríguez de la Rúa-Franch3Fredy E. Molina-Socola4Cristina Vital-Berral5Asunción Alfaro-Juárez6Fernando López-Herrero7Ana Muñoz-Morales8Department of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainDepartment of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainDepartment of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainDepartment of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainDepartment of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainDepartment of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainDepartment of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainDepartment of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainDepartment of Ophthalmology, Virgen del Rocio University Hospital, 41013 Seville, SpainPurpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS. Results. The patient was observed for 39 months, showing spontaneous resolution of the traction caused by the EM and improvement in visual acuity (VA), which was 20/80 at initial presentation, rising to 20/40 after follow-up period. Conclusions. The presence of EM in CHR-REP is a cause of reduction of visual acuity. Management of this condition is controversial; however, we would like to highlight that spontaneous resolution of the traction caused by EM is possible, resulting in recovery of VA.http://dx.doi.org/10.1155/2016/2312196 |
| spellingShingle | José L. Sánchez-Vicente Miguel Contreras-Díaz Trinidad Rueda Enrique Rodríguez de la Rúa-Franch Fredy E. Molina-Socola Cristina Vital-Berral Asunción Alfaro-Juárez Fernando López-Herrero Ana Muñoz-Morales Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane Case Reports in Ophthalmological Medicine |
| title | Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane |
| title_full | Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane |
| title_fullStr | Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane |
| title_full_unstemmed | Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane |
| title_short | Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane |
| title_sort | combined hamartoma of the retina and retinal pigment epithelium in a patient with gorlin syndrome spontaneous partial resolution of traction caused by epiretinal membrane |
| url | http://dx.doi.org/10.1155/2016/2312196 |
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