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Beitragstitel 49,XXXXY syndrome: High myopia and other ophthalmological findings
Beitragscode P55
Autor:innen
  1. Saskia Lindau Universiätsspital Basel Präsentierende:r
  2. Françoise Roulez Universitätspital Basel
  3. Anja Palmowski-Wolfe University Hospital Basel
  4. Faady Yahya Univerisitätsspital Basel
Präsentationsform ePoster
Themengebiete
  • Neuroophthalmology / Strabology
  • Retina Vitreous
Abstract-Text Purpose:
The 49,XXXXY syndrome is a rare gonosomal anomaly in males that is associated with various phenotypic features including skeletal abnormalities, hypogonadism, generalized muscular hypotonia and facial dysmorphism. In addition, ocular manifestations may include strabismus, reduced visual acuity and high degrees astigmatism. To date, only one case of high myopia associated with this condition has been reported in the literature.

Methods:
We present a 23-year-old man with a genetically confirmed 49,XXXXY karyotype and associated progressive high myopia as well as other ophthalmological findings over a follow-up period since birth and discuss this syndrome in relation to other gonosomal anomalies.

Results:
Clinical follow-up was regular from birth to 10 years of age. With astigmatism-correcting spectacles only, best corrected visual acuity was 0.7/0.7, no myopia was present. Ten years later, he presented with complaints that his vision had deteriorated significantly over the past years. Refraction showed high myopia bilaterally (right eye: -6.00sph/-2.75cyl 170°, left eye: -6.00/-2.75cyl 10°). Fundoscopy disclosed slightly pale tilted optic discs and fundus tessellation with no overt signs of retinal degeneration. OCT analysis showed bilateral first-degree foveal hypoplasia. In addition, visual fields were constricted, and intermittent exotropia was present on the left eye. Electrophysiology showed no clear evidence of retinal dysfunction. Treatment consists of prescribing spectacles.

Conclusion:
We confirm high myopia as a finding in 49,XXXXY syndrome. This should raise awareness towards a possibly higher risk of these patients to develop myopia, with the subsequent need for regular ophthalmological examinations, especially during childhood. Further case reports and research is needed to better understand the link between the development of myopia and numerical gonosomal anomalies.