Female carrier of RPGR mutation presenting with high myopia.

Autor:	Seliniotaki AK; 2nd Department of Ophthalmology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece., Ververi A; Genetic Unit, 1st Gynecological & Obstetrics Department, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece., Koukoula S; Ophthalmica Eye Institute, Thessaloniki, Greece., Efstathiou G; Analysi Biopathological Diagnostic Research Laboratories, Thessaloniki, Greece., Gerou S; Analysi Biopathological Diagnostic Research Laboratories, Thessaloniki, Greece., Ziakas N; 2nd Department of Ophthalmology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece., Mataftsi A; 2nd Department of Ophthalmology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Jazyk:	angličtina
Zdroj:	Ophthalmic genetics [Ophthalmic Genet] 2024 Apr; Vol. 45 (2), pp. 159-163. Date of Electronic Publication: 2023 Jul 25.
DOI:	10.1080/13816810.2023.2237571
Abstrakt:	Background: Inherited retinopathies can initially present with high refractive error in the first decade of life, before accompanying signs or symptoms are evident. Case Presentation: A 4-year-old girl with high myopia (S-12.00 C-4.00 × 20 in the right and S-14.50 C-2.75 × 160 in the left eye), moderate visual acuity (0.3 logMAR in the right and 0.4 logMAR in the left eye), and left esotropia, presented with unremarkable past medical history and no family history of high refractive error or low vision. In optical coherence tomography imaging, macular thinning was evident, while morphology was normal. Full-field electroretinogram revealed normal implicit time recordings with reduced amplitudes in scotopic and photopic conditions. Fundus autofluorescence showed a radial pattern in both eyes. During a 5-year follow-up, significant myopia progression ensued (S-17.25 C-3.00 × 20 in the right and S-17.25 C-2.00 × 160 in the left eye), with a corresponding increase in axial length and an unchanged visual acuity. Whole-exome sequencing revealed a heterozygous termination codon variant c.212C>G (p.Ser71Ter) in RPGR , considered to be pathogenic. Segregation analysis precluded the variation in the mother and sister. A random pattern of X-chromosome inactivation was detected in the proband, without X-chromosome inactivation deviation. Conclusion: This is the second report associating this specific RPGR mutation with high myopia and the first report to identify it in a female proband. This case provides additional evidence on the genotypic-phenotypic correlation between RPGR c.212C>G mutation and high myopia.
Databáze:	MEDLINE
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