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SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum |
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| Authors: | Onochie Okoye Jenina Capasso Sarina M. Kopinsky Louise Amlie-Wolf Alex V. Levin Adele Schneider |
| Affiliation: | 1. Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, New York, New York, USA Department of Ophthalmology, University of Nigeria Teaching Hospital, Enugu, Nigeria;2. Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, New York, New York, USA Pediatric Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York, USA;3. Einstein Healthcare Network, Philadelphia, Pennsylvania, USA;4. Nemours Children's Health, Delaware, USA;5. Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, New York, New York, USA;6. Department of Pediatrics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA |
| Abstract: | SOX2 pathogenic variants, though rare, constitute the most commonly known genetic cause of clinical anophthalmia and microphthalmia. However, patients without major ocular malformation, but with multi-system developmental disorders, have been reported, suggesting that the range of clinical phenotypes is broader than previously appreciated. We detail two patients with bilateral structurally normal eyes along with 11 other previously published patients. Our findings suggest that there is no obvious phenotypic or genotypic pattern that may help set apart patients with normal eyes. Our patients provide further evidence for broadening the phenotypic spectrum of SOX2 mutations and re-appraising the designation of SOX2 disorder as an anophthalmia/microphthalmia syndrome. We emphasize the importance of considering SOX2 pathogenic variants in the differential diagnoses of individuals with normal eyes, who may have varying combinations of features such as developmental delay, urogenital abnormalities, gastro-intestinal anomalies, pituitary dysfunction, midline structural anomalies, and complex movement disorders, seizures or other neurological issues. |
| Keywords: | anophthalmia genetics microphthalmia SOX2 syndrome |