Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots
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.
KeywordsGass albinotic spots Hemihypertrophy Café au lait
Jonas Children’s Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory are supported by the National Institute of Health [5P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437], National Cancer Institute Core [5P30CA013696], the Research to Prevent Blindness (RPB) Physician-Scientist Award, unrestricted funds from RPB, New York, NY, USA. E.C.W is supported by the Sarnoff Cardiovascular Research Fellowship. J.D.S is supported by the RPB Medical Student Eye Research Fellowship. S.H.T is a member of the RD-CURE Consortium and is supported by the Tistou and Charlotte Kerstan Foundation, the Schneeweiss Stem Cell Fund, New York State [C029572], the Foundation Fighting Blindness New York Regional Research Center Grant [C-NY05-0705-0312], the Crowley Family Fund, and the Gebroe Family Foundation.
Compliance with ethical standards
Conflict of interest
All authors certify that they have no affiliations with or involvement in any organization or entity with a financial interest (such as honoraria; educational grants; participation in speaker’s bureaus; membership, employment, consultancies, stock ownership or other equity interest; and expert testimony or patent-licensing arrangements) or non-financial interest (such as personal or professional relationship, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.
Statement of human rights
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
Statement of the welfare of animals
This article does not contain any studies with animals performed by any of the authors.
The data presented in this study, including images and genetic testing results, are not identifiable to individual patients. For this type of study, formal consent is not required.
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