A new mutation in the PAX2 gene in a Papillorenal Syndrome patient
Purpose: To present a new mutation in a patient with Papillorenal Syndrome (PAPRS). Observations: PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities. We present a patient with PAPRS with a genetically diagnosed PAX2 and new pathogenic mutation. A complete ophthalmolo...
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| Format: | Article |
| Language: | English |
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Elsevier
2019-12-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993619300374 |
| _version_ | 1819115896663179264 |
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| author | Rahul Rachwani Anil Carlos Rocha-de-Lossada Carlos Hernando Ayala Manuela España Contreras |
| author_facet | Rahul Rachwani Anil Carlos Rocha-de-Lossada Carlos Hernando Ayala Manuela España Contreras |
| author_sort | Rahul Rachwani Anil |
| collection | DOAJ |
| description | Purpose: To present a new mutation in a patient with Papillorenal Syndrome (PAPRS). Observations: PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities. We present a patient with PAPRS with a genetically diagnosed PAX2 and new pathogenic mutation. A complete ophthalmological, neurological, nephrological and Ears-Nose-Throat (ENT) examination were undertaken. The patient suffered from Focal Segmental Glomerulosclerosis (FSGS) and some typical ophthalmological signs of PAPRS, including optic nerve coloboma and optic disc pit (ODP) maculopathy associated with an abnormal retinal vessel distribution and numerous cilioretinal arteries in the right eye. The left eye showed similar vessel abnormalities although the optic disc had a normal morphology. Conclusions: A new mutation in the PAX2 gene was identified in a patient with ocular and renal abnormalities. Keywords: Optic disc pit maculopathy, Papillorenal syndrome, PAX2 gene, Mutation, Vitrectomy |
| first_indexed | 2024-12-22T05:08:29Z |
| format | Article |
| id | doaj.art-2f4d140c570f4cb1ad9b2474e5d8dc74 |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-12-22T05:08:29Z |
| publishDate | 2019-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-2f4d140c570f4cb1ad9b2474e5d8dc742022-12-21T18:38:03ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362019-12-0116A new mutation in the PAX2 gene in a Papillorenal Syndrome patientRahul Rachwani Anil0Carlos Rocha-de-Lossada1Carlos Hernando Ayala2Manuela España Contreras3Corresponding author. Plaza del Hospital Civil s/n, Ophthalmology Department, 29009, Málaga, Spain.; Hospital Regional de Málaga-Hospital Civil, Plaza Del Hospital Civil s/n, Málaga, Málaga, SpainHospital Regional de Málaga-Hospital Civil, Plaza Del Hospital Civil s/n, Málaga, Málaga, SpainHospital Regional de Málaga-Hospital Civil, Plaza Del Hospital Civil s/n, Málaga, Málaga, SpainHospital Regional de Málaga-Hospital Civil, Plaza Del Hospital Civil s/n, Málaga, Málaga, SpainPurpose: To present a new mutation in a patient with Papillorenal Syndrome (PAPRS). Observations: PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities. We present a patient with PAPRS with a genetically diagnosed PAX2 and new pathogenic mutation. A complete ophthalmological, neurological, nephrological and Ears-Nose-Throat (ENT) examination were undertaken. The patient suffered from Focal Segmental Glomerulosclerosis (FSGS) and some typical ophthalmological signs of PAPRS, including optic nerve coloboma and optic disc pit (ODP) maculopathy associated with an abnormal retinal vessel distribution and numerous cilioretinal arteries in the right eye. The left eye showed similar vessel abnormalities although the optic disc had a normal morphology. Conclusions: A new mutation in the PAX2 gene was identified in a patient with ocular and renal abnormalities. Keywords: Optic disc pit maculopathy, Papillorenal syndrome, PAX2 gene, Mutation, Vitrectomyhttp://www.sciencedirect.com/science/article/pii/S2451993619300374 |
| spellingShingle | Rahul Rachwani Anil Carlos Rocha-de-Lossada Carlos Hernando Ayala Manuela España Contreras A new mutation in the PAX2 gene in a Papillorenal Syndrome patient American Journal of Ophthalmology Case Reports |
| title | A new mutation in the PAX2 gene in a Papillorenal Syndrome patient |
| title_full | A new mutation in the PAX2 gene in a Papillorenal Syndrome patient |
| title_fullStr | A new mutation in the PAX2 gene in a Papillorenal Syndrome patient |
| title_full_unstemmed | A new mutation in the PAX2 gene in a Papillorenal Syndrome patient |
| title_short | A new mutation in the PAX2 gene in a Papillorenal Syndrome patient |
| title_sort | new mutation in the pax2 gene in a papillorenal syndrome patient |
| url | http://www.sciencedirect.com/science/article/pii/S2451993619300374 |
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