PedAM
Pediatric Disease Annotations & Medicines
| Disease | albinism |
| Phenotype | C0028738|nystagmus |
| Sentences | 8 |
| PubMedID- 21573087 | The pendular type of nystagmus is associated with ocular albinism, retinoschisis, achromatopsia, and csnb.2 these congenital disorders require differentiation by detailed clinical examination, and by electrophysiological findings under photopic and scotopic conditions. |
| PubMedID- 23908581 | Recently some degrees of stereopsis were reported in albinism patients with minimal clinical nystagmus, if any, in the absence of strabismus. |
| PubMedID- 24647637 | Two possible causes of nystagmus associated with albinism have been proposed: (1) misrouting of fibers within the optic nerve and optic tract due to an unknown pathophysiological mechanism, and (2) abnormal visual function and acuity caused by the foveal hypoplasia resulting from decreased or absent macular pigmentation [18], [19]. |
| PubMedID- 21220551 | These findings may provide useful information in the future elucidation of mechanisms underlying the nystagmus associated with albinism and idiopathic infantile nystagmus. |
| PubMedID- 22992390 | The issue of glare, sensitivity to light and occurrence of nystagmus in patients with albinism is the result of overstimulation of the hypopigmented retina under normal circumstances. |
| PubMedID- 21397803 | Methods: twelve children with infantile nystagmus associated with albinism had eye movements recorded by binocular video-oculography (10 patients) or by scleral search coil (2 patients). |
| PubMedID- 20649618 | Background: this study was undertaken to analyse the oa1 gene (gpr143) and its involvement in a spanish family presenting with nystagmus, a common symptom of x-linked ocular albinism (xloa). |
| PubMedID- 22011499 | Foveal hypoplasia is the characteristic feature of albinism often associated with aniridia, microphthalmus, nystagmus and achromatopsia. |
Page: 1