Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots
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
Parke JT, Riccardi VM, Lewis RA, Ferrell RE (1984) A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. Am J Med Genet 17(3):585–594. https://doi.org/10.1002/ajmg.1320170306
Battaglia Parodi M, Iacono P (2004) Indocyanine green angiography pattern of congenital grouped albinotic retinal pigment epithelial spots. Semin Ophthalmol 19(3–4):114–116. https://doi.org/10.1080/08820530490882670
Kim DY, Hwang JC, Moore AT, Bird AC, Tsang SH (2010) Fundus autofluorescence and optical coherence tomography of congenital grouped albinotic spots. Retina 30(8):1217–1222. https://doi.org/10.1097/IAE.0b013e3181cea5a5
McCulloch DL, Marmor MF, Brigell MG et al (2015) ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 130(1):1–12. https://doi.org/10.1007/s10633-014-9473-7
McCulloch DL, Marmor MF, Brigell MG et al (2015) Erratum to: ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 131(1):81–83. https://doi.org/10.1007/s10633-015-9504-z
Arana LA, Sato M, Arana J (2010) Familial congenital grouped albinotic retinal pigment epithelial spots. Arch Ophthalmol 128(10):1362–1364. https://doi.org/10.1001/archophthalmol.2010.242
de Miranda HA, Costa MC, Frazão MAM, Simão N, Franchischini S, Moshfeghi DM (2016) Expanded Spectrum of congenital ocular findings in microcephaly with presumed Zika infection. Ophthalmology 123(8):1788–1794. https://doi.org/10.1016/j.ophtha.2016.05.001
Rochels R, Knieper P, Wunderlich* M (1980) Hemihypertrophia faciei und Papillenanomalien. Klin Monbl Augenheilkd. 176(5):813–815. https://doi.org/10.1055/s-2008-1057559
Gass JDM (1989) Focal congenital anomalies of the retinal pigment epithelium. Eye 3(1):1–18. https://doi.org/10.1038/eye.1989.2
Tucci A, Saletti V, Menni F et al (2017) The absence that makes the difference: choroidal abnormalities in Legius syndrome. J Hum Genet 62:1001–1004. https://doi.org/10.1038/jhg.2017.78
Viola F, Villani E, Natacci F et al (2012) Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology 119(2):369–375. https://doi.org/10.1016/j.ophtha.2011.07.046
Hivelin M, Wolkenstein P, Lepage C, Valeyrie-Allanore L, Meningaud JP, Lantieri L (2010) Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients. Plast Reconstr Surg 125(4):1197–1207. https://doi.org/10.1097/PRS.0b013e3181d180e9