Corneal opacification in Sanjad-Sakati syndrome.

Case report

Case 1: A 2-year-old with Sanjad-Sakati syndrome (SSS) presented with bilateral microphthalmia. Examination revealed visual acuity (VA) of 20/170 in each eye, and clear microcorneas (horizontal corneal diameters 8.25 mm, right eye (OD); 9 mm, left eye (OS)). Ocular exam was otherwise normal. Eight years later, after being hospitalized for failure to thrive (FTT), her vision decreased to 20/125 OD and 20/100 OS. Examination showed bilateral, central band keratopathy (Fig. 1). The patient underwent EDTA chelation and VA improved to 20/50 both eyes 1 month after surgery.

Fig. 1

Slit lamp evaluation of Patient 1 showing band keratopathy of A) right eye and B) left eye.

Case 2: A 6-month-old with SSS was referred for evaluation of cloudy corneas while hospitalized for FTT. She had a history of bilateral congenital glaucoma (CG) with corneal haze and intraocular pressure (IOP) of 37 OD and 44 OS. She underwent bilateral trabeculotomies one month prior to presentation. Examination revealed bilateral diffuse subepithelial corneal haze and corneal stromal edema (OD > OS) with a large left corneal calcium plaque. The plaque was removed with EDTA chelation. The left cornea healed well; the right eye remained diffusely hazy (Fig. 2) despite normal IOPs. The patient developed a 60-prism-diopter large angle right sensory esotropia. VA was poor fixation OD and fix and follows OS.

Fig. 2

Patient 2 with severe corneal haze and large angle sensory esotropia of the right eye.

Discussion

SSS is a rare genetic disorder caused by homozygous deletion of the tubulin specific chaperone E gene. It predominantly affects children from the Arabian Peninsula and is characterized by congenital hypoparathyroidism, developmental delay, seizures, microcephaly, and dysmorphic features., Several ocular manifestations have been reported in SSS including microphthalmia, hypermetropia, strabismus, corneal opacities, persistent fetal vasculature, optic nerve swelling, and retinal vascular tortuosity. The corneal opacities have largely been described as stromal scarring with overlying epithelial irregularities. The pathogenesis of the ocular findings may be due to faulty microtubule assembly. Metabolic disturbances are likely the cause of corneal calcium deposition in SSS. We believe that aggressive calcium and vitamin D supplementation in these patients may also play a role.

The association of CG with SSS has never been reported before. There are reports of congenital glaucoma being associated with deficient microtubule assembly and may explain this association. The lack of improvement in corneal clouding after improvement of IOP may be related to the depth and duration of corneal edema and haze.

Conclusion

Ophthalmologists should be aware of the association between SSS and corneal opacification, as late diagnosis may lead to amblyopia and sensory strabismus. CG must be ruled out in the setting of corneal clouding.

Research ethics

Written consent to publish this case has not been obtained. This report does not contain any personal identifying information.

Funding

None.

Authorship

All authors attest that they meet the current ICMJE criteria for authorship.

Financial disclosures

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Patient consent

Written consent to publish this case has not been obtained. This report does not contain any personal identifying information.

Declaration of competing interest

The following authors have no financial disclosures (AME and HNS).