thiamine has been researched along with Leber Congenital Amaurosis in 2 studies
thiamine(1+) : A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.
Leber Congenital Amaurosis: A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
| Excerpt | Relevance | Reference |
|---|---|---|
| "This case demonstrates Leber congenital amaurosis can present as the first clinical feature before systemic manifestations." | 5.72 | Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome. ( Sui, R; Sun, Z; Wu, S; Yao, F; Yuan, Z, 2022) |
| "A female child presented with Leber's congenital amaurosis at 10 months of age, later diagnosed with hearing impairment at 1 year, diabetes mellitus and megaloblastic anemia at 3 and a half years of age and hence as a case of thiamine responsive megaloblastic anemia." | 3.80 | Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report. ( Arokiasamy, T; Meenakshi, S; Murali, K; Soumittra, N; Srikrupa, NN, 2014) |
| "This case demonstrates Leber congenital amaurosis can present as the first clinical feature before systemic manifestations." | 1.72 | Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome. ( Sui, R; Sun, Z; Wu, S; Yao, F; Yuan, Z, 2022) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 1 (50.00) | 2.80 |
| Authors | Studies |
|---|---|
| Wu, S | 1 |
| Yuan, Z | 1 |
| Sun, Z | 1 |
| Yao, F | 1 |
| Sui, R | 1 |
| Srikrupa, NN | 1 |
| Meenakshi, S | 1 |
| Arokiasamy, T | 1 |
| Murali, K | 1 |
| Soumittra, N | 1 |
2 other studies available for thiamine and Leber Congenital Amaurosis
| Article | Year |
|---|---|
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
Topics: Adolescent; Anemia, Megaloblastic; Child; China; Diabetes Mellitus; Hearing Loss, Sensorineural; Hum | 2022 |
Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
Topics: Anemia, Megaloblastic; Diabetes Mellitus; Exons; Female; Hearing Loss, Sensorineural; Humans; Infant | 2014 |