Background: Sanjad-Sakati syndrome (SSS) is a rare disorder characterized by hypoparathyroidism, growth and developmental delay, and dysmorphism. The purpose of this report is to describe the ophthalmic manifestations of Sanjad-Sakati syndrome (SSS; hypoparathyroidism-mental retardation-dysmorphism syndrome, HRD) (OMIM 241410).
Patients: We included a total of 17 patients who were seen at two hospitals in Riyadh.
Methods: Each patient underwent a complete ophthalmologic evaluation including visual acuity assessment, orthoptic workup, slit-lamp biomicroscopy, intraocular pressure measurement, cycloplegic retinoscopy, funduscopy, corneal diameter, and axial length measurement.
Results: All 17 (100%) of the patients had normal visual acuity. All patients had microphthalmia with normal intraocular pressure. Eight (47%) of the patients had esotropia and four (23%) had exotropia. Ophthalmoscopy revealed tortuous retinal blood vessels in all patients. Hyperopic astigmatism was present in 16 (94%) patients.
Conclusion: Patients with SSS display a variety of ocular findings including errors of refraction, strabismus, and retinal vascular tortuousity.
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