title: Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
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 demonstrates that patients with developmental anomalies often have ocular manifestations, warranting a full ophthalmic examination when the diagnosis of STAR syndrome has been made or is being considered.
authors.affiliation: a Department of Ophthalmology , University Hospitals of Case Medical Center , Cleveland , Ohio , USA.
authors.forename: Faruk H
authors.initials: FH
authors.lastname: Orge
authors.affiliation: b Case Western Reserve University School of Medicine , Cleveland , Ohio , USA.
authors.forename: Suhail A
authors.initials: SA
authors.lastname: Dar
authors.affiliation: c Institute for Healthcare Quality and Innovation, University Hospitals of Case Medical Center , Cleveland , Ohio , USA.
authors.forename: Christie N
authors.initials: CN
authors.lastname: Blackburn
authors.affiliation: d Center for Human Genetics, University Hospitals of Case Medical Center , Cleveland , Ohio , USA.
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Grimes-Hodges
authors.affiliation: d Center for Human Genetics, University Hospitals of Case Medical Center , Cleveland , Ohio , USA.
authors.forename: Anna L
authors.initials: AL
authors.lastname: Mitchell
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D000869:Anterior Eye Segment / Q000473:pathology; D016213:Cyclins / Q000235:genetics*; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D009154:Mutation; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics; D009900:Optic Nerve / Q000002:abnormalities; D015593:Retinal Drusen / Q000175:diagnosis / Q000235:genetics; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D014034:Toes / Q000002:abnormalities*; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000235:genetics*
chemical_list: C527705:CCNQ protein, human; D016213:Cyclins
keywords: FAM58A; STAR syndrome; macular drusen; madarosis; ophthalmology; optic nerve hypoplasia; peripapillary atrophy; peripheral anterior synechia; visual development