Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome

Ophthalmic Genetics
Faruk H OrgeAnna L Mitchell

Abstract

To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, anogenital and renal malformations (STAR) syndrome, a rare X-linked developmental disorder. The medical and ophthalmic records were reviewed for a mother-daughter pair diagnosed with FAM58A confirmed STAR syndrome on chromosome Xq28. The mother at birth had left foot syndactyly, telecanthus, anal stenosis, and clitoromegaly and was told at 19 she had a hypoplastic left kidney. The daughter, born at 38 weeks after a complication of oligohydramnios, had a more severe presentation, demonstrating toe syndactyly, telecanthus, anal stenosis, clitoromegaly, bilateral renal hypoplasia, ureteral reflux, urogenital sinus, and congenital heart disease amongst others. The pair shared similar ophthalmic findings, though those of the daughter were more pronounced. They included bilateral, medial upper eyelid prominences with madarosis, mild peripapillary atrophy, and soft macular drusen with the daughter also displaying optic nerve hypoplasia and peripheral anterior synechia in the iridocorneal angle. These ophthalmic findings are the first reported to our knowledge in association with STAR syndrome. The literature frequently ...Continue Reading

References

Mar 1, 1977·Archives of Neurology·M M OkihiroB K Bennett
Jul 1, 1990·Journal of Medical Genetics·M O'Callaghan, I D Young
Jul 1, 1996·Journal of Medical Genetics·A J GreenB C Davison
May 11, 2007·Clinical Genetics·D GenevièveS Lyonnet
Nov 13, 2013·Proceedings of the National Academy of Sciences of the United States of America·Vincent J GuenPierre Colas

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Citations

Mar 23, 2017·American Journal of Medical Genetics. Part a·Nicole J BoczekBrendan C Lanpher
Feb 23, 2017·Clinical Dysmorphology·Henrietta LefroyDeborah J Shears
Nov 1, 2017·American Journal of Medical Genetics. Part a·Maria F BedeschiMonica Miozzo
Feb 9, 2017·Oncotarget·Vincent J GuenPierre Colas
Aug 9, 2020·Orphanet Journal of Rare Diseases·Pierre Colas
Apr 4, 2021·International Journal of Molecular Sciences·Paweł ŁukasikIzabela Gutowska
Sep 29, 2021·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Sara P AbrahamMichaela Bosakova

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