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Abstract #50266 Published in IGR 14-2
Familial Juvenile Normal-tension Glaucoma With Anterior Segment Dysgenesis: A Clinical Report of a New Phenotype
Barkana Y; Shoshany N; Almer Z; Pras EJournal of Glaucoma 2013; 22: 510-514
PURPOSE: To describe a new familial syndrome consisting of anterior segment dysgenesis, glaucomatous optic neuropathy, and intraocular pressure (IOP) in the normal range. DESIGN: Observational case series. METHODS: Subjects were available for examination from a 2-generation pedigree. Ophthalmic examination and photography, visual field examination, and optical coherence tomography of the peripapillary retinal nerve fiber layer were performed. In some subjects, medical work-up was performed. RESULTS: Eight affected subjects were identified. All had signs of Axenfeld-like anterior segment dysgenesis, ranging from a single fine iris process to diffuse broad iris synechiae extending to a prominent posterior embryotoxon. Four of the 8 subjects had glaucoma-appearing optic nerve heads with corresponding visual field defects; in a fifth subject, glaucoma was suspected on the basis of optic nerve appearance, but the visual field was full. IOP was consistently in the low-teens to mid-teens except in 1 eye in which it was 22 mm Hg, the highest recorded pressure in all examined subjects. CONCLUSIONS: A new phenotype is presented, characterized by IOP in the normal range, glaucomatous-appearing optic nerve cupping, and anterior segment dysgenesis. The suggested mode of inheritance is autosomal dominant with marked intrafamilial variability.
Department of Ophthalmology, Assaf Harofe Medical Center, Zerifin, Israel.
Full articleClassification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
