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Article

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Japanese journal of ophthalmology - 1 Mar 2020

Wawrocka Anna, Walczak-Sztulpa Joanna, Bukowska-Olech Ewelina, Jamsheer Aleksander, Jaworski Marcin, Jaworski Piotr, Krawczynski Maciej Robert

Abstract excerpt

PURPOSE: Genetic analysis of two siblings with complex microphthalmia, with clinically healthy parents. STUDY DESIGN: Clinical and experimental. METHODS: The patients underwent a detailed ophthalmic evaluation, including visual acuity, fundus examination, gonioscopy, ultrasound examination, and optical coherence tomography. Lensectomy with anterior vitrectomy was conducted in both patients. Additionally, in...

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Source

Identifiers

PMID: 32016663
DOI: 10.1007/s10384-020-00715-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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