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Article

Female carrier of RPGR mutation presenting with high myopia.

Ophthalmic genetics - 1 Apr 2024

Seliniotaki Aikaterini K, Ververi Athina, Koukoula Stavrenia, Efstathiou Georgios, Gerou Spyridon, Ziakas Nikolaos, Mataftsi Asimina

Abstract excerpt

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...

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Source

Identifiers

PMID: 37489109
DOI: 10.1080/13816810.2023.2237571

Genes

RPGR

Variants

Provenance

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