Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots

Springer Science and Business Media LLC - Tập 137 - Trang 9-14 - 2018
Eugenia C. White1,2, Jesse D. Sengillo1,3, Galaxy Y. Cho1, Mathieu F. Bakhoum1,4, Stephen H. Tsang5,1
1Department of Ophthalmology, Columbia University, New York, USA
2Louisiana State University Health Sciences Center, Shreveport, USA
3State University of New York Downstate Medical Center, New York, USA
4Department of Ophthalmology, Nassau University Medical Center, East Meadow, USA
5Jonas Children’s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, USA

Tóm tắt

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.

Tài liệu tham khảo

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