Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association.

PURPOSE: 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.

CONCLUSION

Ocular findings of midperipheral chorioretinal degeneration with myopic foveoschisis can be the initial presenting manifesation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.