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Abstract #80443 Published in IGR 20-3
Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome
Sethi S; Thau A; Kaplan P; Asher SB; Levin AVJournal of AAPOS 2019; 23: 169-171
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.
Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania.
Full articleClassification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
