Ophthalmic manifestations of Sanjad-Sakati syndrome.
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).


METHODS
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.


CONCLUSIONS
Patients with SSS display a variety of ocular findings including errors of refraction, strabismus, and retinal vascular tortuousity.
Al Dhoyan
Norah
N
Department of Ophthalmology, Riyadh Armed Forces Hospital, Riyadh, Saudi Arabia.
Al Hemidan
Amal I
AI
Ozand
Pinar T
PT
D000293:Adolescent; D001251:Astigmatism / Q000209:etiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000235:genetics; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005128:Eye Diseases / Q000209:etiology* / Q000235:genetics; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications* / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D007429:Intraocular Pressure; D008297:Male; D008850:Microphthalmos / Q000209:etiology / Q000235:genetics; D012164:Retinal Diseases / Q000209:etiology / Q000235:genetics; D012171:Retinal Vessels / Q000002:abnormalities; D042262:Retinoscopy; D013285:Strabismus / Q000209:etiology / Q000235:genetics; D013577:Syndrome