Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child
Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase resulting in progressive chorioretinal atrophy, nyctalopia, and possibly blindn...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-05-01
|
| Series: | Oman Journal of Ophthalmology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ojo.ojo_247_24 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849708329591373824 |
|---|---|
| author | Nguyen Minh-Phu Nguyen Hanh Giang Nguyen Ngan-Ha Nguyen Huu Hong Thu Nguyen Hai Ha |
| author_facet | Nguyen Minh-Phu Nguyen Hanh Giang Nguyen Ngan-Ha Nguyen Huu Hong Thu Nguyen Hai Ha |
| author_sort | Nguyen Minh-Phu |
| collection | DOAJ |
| description | Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase resulting in progressive chorioretinal atrophy, nyctalopia, and possibly blindness. This report presents the case of a 7-year-old Vietnamese boy with no history of trauma and a complaint of sudden visual loss over the past 6 weeks. Fundus examination showed vitreous hemorrhage in the right eye and chorioretinal atrophy with hyperpigmented margins in the periphery retina of the left eye. Based on the high serum ornithine level and compound heterozygous mutations detected in the ornithine aminotransferase (OAT) gene of the patient, he was diagnosed with GA. The patient underwent a right eye vitrectomy and was supplemented with Vitamin B6 and an arginine-restricted diet. Four months after surgery, the patient’s visual acuity was significantly improved, and there was no progression of chorioretinal atrophy or recurrent vitreous hemorrhage. GA is an extremely rare disease and difficult to diagnose, especially when accompanied by vitreous hemorrhage. Combining genetic tests with clinical examinations helped diagnose accurately, and prompt treatment could restore the patient’s visual function. |
| format | Article |
| id | doaj-art-d16486ef84fa4b1dba67a0eef9e3a13d |
| institution | DOAJ |
| issn | 0974-620X 0974-7842 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Oman Journal of Ophthalmology |
| spelling | doaj-art-d16486ef84fa4b1dba67a0eef9e3a13d2025-08-20T03:15:42ZengWolters Kluwer Medknow PublicationsOman Journal of Ophthalmology0974-620X0974-78422025-05-0118220821110.4103/ojo.ojo_247_24Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese childNguyen Minh-PhuNguyen Hanh GiangNguyen Ngan-HaNguyen Huu Hong ThuNguyen Hai HaGyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase resulting in progressive chorioretinal atrophy, nyctalopia, and possibly blindness. This report presents the case of a 7-year-old Vietnamese boy with no history of trauma and a complaint of sudden visual loss over the past 6 weeks. Fundus examination showed vitreous hemorrhage in the right eye and chorioretinal atrophy with hyperpigmented margins in the periphery retina of the left eye. Based on the high serum ornithine level and compound heterozygous mutations detected in the ornithine aminotransferase (OAT) gene of the patient, he was diagnosed with GA. The patient underwent a right eye vitrectomy and was supplemented with Vitamin B6 and an arginine-restricted diet. Four months after surgery, the patient’s visual acuity was significantly improved, and there was no progression of chorioretinal atrophy or recurrent vitreous hemorrhage. GA is an extremely rare disease and difficult to diagnose, especially when accompanied by vitreous hemorrhage. Combining genetic tests with clinical examinations helped diagnose accurately, and prompt treatment could restore the patient’s visual function.https://journals.lww.com/10.4103/ojo.ojo_247_24gyrate atrophyoat genepathogenic variants |
| spellingShingle | Nguyen Minh-Phu Nguyen Hanh Giang Nguyen Ngan-Ha Nguyen Huu Hong Thu Nguyen Hai Ha Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child Oman Journal of Ophthalmology gyrate atrophy oat gene pathogenic variants |
| title | Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child |
| title_full | Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child |
| title_fullStr | Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child |
| title_full_unstemmed | Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child |
| title_short | Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child |
| title_sort | gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a vietnamese child |
| topic | gyrate atrophy oat gene pathogenic variants |
| url | https://journals.lww.com/10.4103/ojo.ojo_247_24 |
| work_keys_str_mv | AT nguyenminhphu gyrateatrophyofthechoroidandretinawithvitreoushemorrhagecomplicationinavietnamesechild AT nguyenhanhgiang gyrateatrophyofthechoroidandretinawithvitreoushemorrhagecomplicationinavietnamesechild AT nguyennganha gyrateatrophyofthechoroidandretinawithvitreoushemorrhagecomplicationinavietnamesechild AT nguyenhuuhongthu gyrateatrophyofthechoroidandretinawithvitreoushemorrhagecomplicationinavietnamesechild AT nguyenhaiha gyrateatrophyofthechoroidandretinawithvitreoushemorrhagecomplicationinavietnamesechild |