Microspherophakia in a 47, XYY Syndrome Patient: A Case Report.

Autor: Rubalcava-Soberanis ML; Department of Microsurgery of the Anterior Segment, Fundación Hospital Nuestra Señora de la Luz IAP, Mexico City, Mexico., Antonio-Aguirre B; Department of Microsurgery of the Anterior Segment, Fundación Hospital Nuestra Señora de la Luz IAP, Mexico City, Mexico.; Department of Molecular Biology and Biochemistry, Universidad Panamericana Escuela de Medicina, Mexico City, Mexico., Mendoza Velásquez C; Department of Microsurgery of the Anterior Segment, Fundación Hospital Nuestra Señora de la Luz IAP, Mexico City, Mexico., Perez-Ortiz AC; Department of Public Health, Universidad Panamericana Escuela de Medicina, Mexico City, Mexico.; Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA., Palacio-Pastrana C; Department of Microsurgery of the Anterior Segment, Fundación Hospital Nuestra Señora de la Luz IAP, Mexico City, Mexico.
Jazyk: angličtina
Zdroj: Case reports in ophthalmology [Case Rep Ophthalmol] 2020 Jan 03; Vol. 11 (1), pp. 1-7. Date of Electronic Publication: 2020 Jan 03 (Print Publication: 2020).
DOI: 10.1159/000505058
Abstrakt: 47, XYY syndrome affects males with variable phenotypic expression. Around 80-99% of affected individuals present low-set ears, malar flattening, motor delay, and tall stature. Yet, some cases lack signs or symptoms or are barely noticeable. There are four reports of ocular involvement among these individuals - one with unusual multiple retinal atrophic holes in the posterior pole, other with coloboma, an association with morning glory syndrome, and a case of congenital cataract. Here, we describe a plausible new ocular sign in a 4-year-old male with 47, XYY syndrome who was brought to the outpatient clinic for vision loss. After a complete assessment, we diagnosed a right-sided phacomorphic glaucoma and microspherophakia treated with phacoemulsification and aspiration with posterior capsulotomy and anterior vitrectomy, followed by an Ahmed valve implant for intraocular pressure control. Even though there is a low prevalence of ocular involvement in 47, XYY syndrome cases, this might reflect the rarity of the full expression of the disease leading to an underdiagnosis, added to the scarcity of cases. Microspherophakia and phacomorphic glaucoma among four others previously reported ocular findings could be looked for in 47, XYY syndrome patients.
Competing Interests: All of the authors declare a nonexistent conflict of interest regarding the publication of the present article.
(Copyright © 2020 by S. Karger AG, Basel.)
Databáze: MEDLINE
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