| Title |
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots
|
|---|---|
| Published in |
Documenta Ophthalmologica, May 2018
|
| DOI | 10.1007/s10633-018-9639-9 |
| Pubmed ID | |
| Authors |
Eugenia C. White, Jesse D. Sengillo, Galaxy Y. Cho, Mathieu F. Bakhoum, Stephen H. Tsang |
| Abstract |
To describe the finding of circularly grouped hypomelanotic spots in the central macula of a patient with syndromic characteristics. Case report of a patient with albinotic spots grouped within the macula, café au lait spots, and left-sided hemihypertrophy. A 15-year-old boy presented with hypomelanotic spots which were hyperautofluorescent on fundus autofluorescence imaging with no disruption of the retinal laminae or photoreceptor inner and outer segment (IS/OS) junction on spectral domain optical coherence tomography. His developmental history included hemihypertrophy, café au lait spots over his axilla and extremities, and surgically corrected left-sided cryptorchidism. Other ocular history included resolved convergence insufficiency and red-green color blindness. It is essential to recognize that circularly grouped hypomelanotic spots are a benign condition. The location and arrangement of the hypomelanotic spots were atypical for congenital grouped albinotic spots of the retinal pigment epithelium (CGAS) as they were grouped within the macula in addition to a more characteristic linear "bear track" formation in the periphery. To the authors' knowledge, this is the first report of CGAS present in a patient with hemihypertrophy, café au lait spots, and cryptorchidism and may represent a novel syndromic association. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 12 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 2 | 17% |
| Professor | 2 | 17% |
| Student > Bachelor | 1 | 8% |
| Student > Ph. D. Student | 1 | 8% |
| Student > Master | 1 | 8% |
| Other | 1 | 8% |
| Unknown | 4 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 2 | 17% |
| Neuroscience | 2 | 17% |
| Arts and Humanities | 1 | 8% |
| Materials Science | 1 | 8% |
| Unknown | 6 | 50% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 23 June 2018.
All research outputs
#15,478,839
of 23,081,466 outputs
Outputs from Documenta Ophthalmologica
#269
of 461 outputs
Outputs of similar age
#207,838
of 327,797 outputs
Outputs of similar age from Documenta Ophthalmologica
#8
of 8 outputs
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