Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients

Ophthalmic Genet. 2014 Dec;35(4):229-34. doi: 10.3109/13816810.2014.946056. Epub 2014 Aug 12.


Background: Congenital central hypoventilation syndrome (CCHS) is a rare dysgenetic form of neurocristopathy associated with dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are reported in CCHS children, and range from pupillary and iris abnormalities to ptosis, strabismus and convergence deficiency. Since earlier CCHS diagnosis and multidisciplinary management, combined with improved ventilatory support techniques, the lifespan of children with CCHS has been considerably lengthened. The oldest of them have now reached adult age and we report in this study the results of their ophthalmologic examination.

Materials and methods: Nine CCHS adult patients were prospectively included during a 14-month period. Each patient underwent complete ophthalmologic examination, static pupillometry with scotopic and photopic pupillary diameter (PD) measures, Humphrey 24-2 visual field analysis, macular OCT and complete orthoptic assessment including a Hess-Lancaster test.

Results: Ophthalmologic abnormalities were found in six of the nine patients (66%). The main features were strabismus in six patients (66%). Four patients (44%) displayed abnormal pupillary function, with a decrease in average scotopic PD (3.8 ± 1.4 mm), average photopic PD (3.5 ± 1.2 mm), and average percentage of pupillary constriction (7.6 ± 8.5%). Three patients (33%) exhibited iris abnormalities such as iris atrophy, smooth iris surface and atrophic sphincter.

Conclusion: This study allowed the description of ophthalmologic abnormalities occurring in CCHS in a series of adult patients, thus improving current knowledge of the disease. The prevalence of pupillary and iris lesions were lower than those observed in a series of children, suggesting that they could be considered as systemic disease severity markers.

Keywords: Congenital central hypoventilation syndrome; dysgenetic neurocristopathy; ondine’s curse; pupillometry; strabismus.

MeSH terms

  • Adult
  • Female
  • Follow-Up Studies
  • Humans
  • Hypoventilation / congenital*
  • Hypoventilation / diagnosis
  • Iris Diseases / diagnosis*
  • Male
  • Prospective Studies
  • Pupil Disorders / diagnosis*
  • Sleep Apnea, Central / diagnosis*
  • Strabismus / diagnosis*
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests
  • Visual Fields / physiology
  • Young Adult

Supplementary concepts

  • Congenital central hypoventilation syndrome