title: Familial juvenile normal-tension glaucoma with anterior segment dysgenesis: a clinical report of a new phenotype.
abstract: OBJECTIVE
  To describe a new familial syndrome consisting of anterior segment dysgenesis, glaucomatous optic neuropathy, and intraocular pressure (IOP) in the normal range.
  
  
  METHODS
  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.
authors.affiliation: Department of Ophthalmology, Assaf Harofe Medical Center, Zerifin, Israel. yanivbarkana@gmail.com
authors.forename: Yaniv
authors.initials: Y
authors.lastname: Barkana
authors.forename: Nadav
authors.initials: N
authors.lastname: Shoshany
authors.forename: Zina
authors.initials: Z
authors.lastname: Almer
authors.forename: Eran
authors.initials: E
authors.lastname: Pras
mesh_terms: D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007429:Intraocular Pressure; D057066:Low Tension Glaucoma / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D041623:Tomography, Optical Coherence; D055815:Young Adult