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

Documenta Ophthalmologica. Advances in Ophthalmology
Eugenia C WhiteStephen 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 hemihypertr...Continue Reading

References

May 1, 1980·Klinische Monatsblätter für Augenheilkunde·R RochelsM Wunderlich
Dec 14, 2004·Seminars in Ophthalmology·Maurizio Battaglia Parodi, Pierluigi Iacono
Oct 13, 2010·Archives of Ophthalmology·Luís Augusto AranaJayme Arana
Dec 17, 2014·Documenta Ophthalmologica. Advances in Ophthalmology·Daphne L McCullochMichael Bach
Jun 11, 2015·Documenta Ophthalmologica. Advances in Ophthalmology·Daphne L McCullochMichael Bach
May 30, 2016·Ophthalmology·Homero Augusto de MirandaDarius M Moshfeghi
Jul 28, 2017·Journal of Human Genetics·Arianna TucciFederica Natacci

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Citations

Apr 30, 2020·Ophthalmic Surgery, Lasers & Imaging Retina·João Pedro MarquesRufino Silva

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