| Title |
Ocular findings in two siblings with Joubert syndrome
|
|---|---|
| Published in |
Clinical Ophthalmology, January 2014
|
| DOI | 10.2147/opth.s58672 |
| Pubmed ID | |
| Authors |
Shinji Makino, Hironobu Tampo |
| Abstract |
We describe two brothers with Joubert syndrome (JS). JS diagnosis was made on the basis of neurological findings and the presence of the characteristic "molar tooth sign", which was subsequently confirmed by magnetic resonance imaging. Both brothers demonstrated ptosis, hypotropia, exotropia, and horizontal pendular nystagmus. The younger brother had mild chorioretinal discoloration at the peripapillary region in both eyes, and a small coloboma at the inferior region of his right optic disc. The elder brother had coloboma in his right eye and a colobomatous optic disc in his left eye. Optical coherence tomography showed that the foveal architecture was preserved in both patients. We discuss the ocular findings, including those from optical coherence tomography, in JS, which has recently been recognized as ciliopathy. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 7 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 7 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 57% |
| Student > Ph. D. Student | 1 | 14% |
| Student > Master | 1 | 14% |
| Unknown | 1 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 2 | 29% |
| Biochemistry, Genetics and Molecular Biology | 1 | 14% |
| Agricultural and Biological Sciences | 1 | 14% |
| Nursing and Health Professions | 1 | 14% |
| Unknown | 2 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 30 January 2014.
All research outputs
#17,438,425
of 25,584,565 outputs
Outputs from Clinical Ophthalmology
#1,780
of 3,687 outputs
Outputs of similar age
#203,947
of 320,237 outputs
Outputs of similar age from Clinical Ophthalmology
#21
of 67 outputs
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