Keratoconus In A Child With Peculiar Facies?

To  report ophthalmic manifestations of a developmental systemic disease in child.

A 6 years old girl diagnosed keratoconus in the local hospital for her high corneal curvature and low best-corrected visual acuity (BCVA).

She was presented with peculiar facies, including low-set ears, depressed nasal bridge, anteverted nostrils, long philtrum, thin lips, dental abnormalities, metacarpophalangeal hyperflexion and rough skin in both hands and feet. Also, she was born in a low birth weight (1.7KG) at full term, and manifested as a sickly stunted girl predisposed to respiratory infections and intellectual disabled in mathematic.

The uncorrected visual acuity is 0.3 and the BCVA is 0.4 (Snellen) in her both eyes, with mild myopia (less than -1.5D) and astigmatism (-1.25D). Her cornea is transparent with no signs of fleischer rings or vogt striae. The ocular examines results manifest the short axial length (AL), small (10.5mm in diameter) and uniform thinning (about 400μm in thickness) cornea with high but symmetry corneal curvature (about 51/52 diopter). There are no signs of cornea keratoconus, as evidenced by SIRIUS and PENTACAM examines in a year-long follow-up. The ERG and VEP indicates the normal function of retinal photoreceptors and the integrity of her ocular nerve transduction. However, the OCT indicates general thinning in the optic nerve fiber layer and slightly disordered inner structure of macular area. Importantly, the gene analysis showed SMC3 variation in this girl, which is positive in her father, but not in her mother and younger brother.

Overall, the gene analysis combined with clinical manifestation pointed a systemic disease-Cornelia de Lange syndrome (CdLS), which is a rare multiorgan development disease. In this case, the generalized thinning and high curvature small cornea with short AL and retinal structure abnormality have not been reported in the patients with CdLS, which might update the reported ophthalmic manifestations of this developmental systemic disease.