title: Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association.
abstract: OBJECTIVE
  To report ophthalmic features in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, an uncommon presentation.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  An 18-year-old Indian boy presented with progressive diminution of vision, night blindness, lenticular opacities, and midperipheral chorioretinal atrophy. Spectral domain optical coherence tomography revealed myopic foveoschisis, and Humphrey visual fields 30-2 showed peripheral field constriction. He had no neurocognitive disabilities. Serum biochemical analysis revealed hyperornithinemia, hyperglycinemia, and raised ornithine/citrulline ratio suggestive of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
  
  
  CONCLUSIONS
  Ocular findings of midperipheral chorioretinal degeneration with myopic foveoschisis can be the initial presenting manifesation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
authors.affiliation: Dr. Agarwal's Retina Foundation and Dr. Agarwal's Eye Hospital, Chennai, India.
authors.forename: Kshitiz
authors.initials: K
authors.lastname: Kumar
authors.forename: Amar
authors.initials: A
authors.lastname: Agarwal
authors.forename: Athiya
authors.initials: A
authors.lastname: Agarwal
authors.forename: Atul
authors.initials: A
authors.lastname: Dhawan
authors.forename: Nisha
authors.initials: N
authors.lastname: Chandani
authors.forename: Pallavi
authors.initials: P
authors.lastname: Raj
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000473:pathology*; D005654:Fundus Oculi; D006801:Humans; D022124:Hyperammonemia / Q000150:complications* / Q000175:diagnosis; D008297:Male; D009216:Myopia / Q000175:diagnosis / Q000209:etiology*; D009952:Ornithine / Q000172:deficiency*; D012162:Retinal Degeneration / Q000175:diagnosis / Q000209:etiology*; D041623:Tomography, Optical Coherence; D056806:Urea Cycle Disorders, Inborn / Q000150:complications* / Q000175:diagnosis; D014822:Vitreous Body / Q000473:pathology*
chemical_list: D009952:Ornithine