1. Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome
- Author
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Alex V. Levin, Sonia Sethi, Avrey Thau, Stephanie B. Asher, and Paige Kaplan
- Subjects
Intraocular pressure ,medicine.medical_specialty ,Visual acuity ,Foot Deformities, Congenital ,genetic structures ,DNA Mutational Analysis ,Population ,Visual Acuity ,Glaucoma ,Hypotrichosis ,Retina ,03 medical and health sciences ,0302 clinical medicine ,Cataracts ,Intellectual Disability ,medicine ,Humans ,Abnormalities, Multiple ,Eye Finding ,Craniofacial ,Child ,education ,Intraocular Pressure ,education.field_of_study ,business.industry ,Vitreoretinopathy, Proliferative ,Facies ,medicine.disease ,Dermatology ,eye diseases ,Vitreous Body ,Ophthalmology ,Phenotype ,Nicolaides–Baraitser syndrome ,Mutation ,Pediatrics, Perinatology and Child Health ,030221 ophthalmology & optometry ,Female ,sense organs ,medicine.symptom ,business ,Transcription Factors - Abstract
We report the case of a 12-year-old girl diagnosed with Nicolaides-Baraitser syndrome with novel ocular features. Diagnosis was based on clinical features, including developmental delay, sparse hair, and craniofacial features along with de novo mutation in SMARCA2. Eye findings included bilateral glaucoma, cataracts, and degenerative vitreoretinopathy. Given the absence of an associated recognizable disorder and the low prevalence of these ocular findings in the general population, we suggest that these ocular features may not be chance association.
- Published
- 2019
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