Luscan-Lumish syndrome: A case report.

backgroundLuscan-Lumish syndrome (LLS) is a rare genetic congenital anomaly syndrome characterised by neurodevelopmental disorders, including delayed psychomotor development, behavioral difficulties, relative or true macrocephaly and, in individual cases, ocular abnormalities. This paper aims to present the case of a child with ocular abnormalities associated with LLS. CASE SUMMARY: A 10-year-old girl born at 40 weeks gestation with features of dysmorphia, neurodevelopmental disorders, genetically confirmed LLS, convergent strabismus and suspected congenital glaucoma. Eye examination, ultrasound, optical coherence tomography (OCT), perimetry and electrophysiological study [pattern visually evoked potentials (VEP)] were performed. Best-corrected distance visual acuity was 0.5 in the right eye (correction -1.0 Dsph, -1.0 Dcyl, axis 180°) and 0.62 in the left eye (correction -2.0 Dsph). Near visual acuity (Snellen Chart) with the above correction was -0.5 D. A cycloplegic refraction test yielded -1.25 Dsph, -1.25 Dcyl, axis 165° in the right eye, and -2.0 Dsph, -0.25 Dcyl, axis 154° in the left eye. Intraocular pressure was 15 mmHg in both eyes. OCT of the maculae showed no abnormalities. In both eyes, the average ganglion cell layer and inner plexiform layer thickness was 73 μm. OCT of the optic nerve disc showed an average retinal nerve fibre layer thickness of 89 μm in the right eye and 81 μm in the left eye, with symmetry of 90%. The rim area was 1.59 mm

conclusionAlthough eye abnormalities are infrequently described in children with LLS, the patients should undergo eye examinations, especially as they may have central nervous system anomalies that may give rise to visual impairments. Generally, children with genetically determined congenital syndromes should receive regular ophthalmic check-ups for a thorough evaluation of the eyes and prognosis of the development of visual function.