Luscan-Lumish syndrome: A case report

Area of Science:

• Ophthalmology
• Genetics
• Neurodevelopmental Disorders

Background:

• Luscan-Lumish syndrome (LLS) is a rare genetic disorder characterized by neurodevelopmental issues and occasional ocular abnormalities.
• This paper details the ophthalmological findings in a pediatric case of genetically confirmed LLS.

Observation:

• A 10-year-old girl with LLS presented with convergent strabismus and suspected congenital glaucoma.
• Ophthalmological examination included visual acuity, refraction, intraocular pressure, OCT, ultrasound, perimetry, and pattern VEP.
• Findings revealed relative myopia, normal OCT macular and optic nerve results, vitreous echoes, and relative visual field defects.

Findings:

• Pattern VEP showed normal P100 latency but reduced wave amplitude in the right eye.
• Static perimetry identified relative scotomas with a mean defect of 4.7 dB (OD) and 2.6 dB (OS).
• Ocular ultrasound detected vitreous echoes, while OCT confirmed normal retinal nerve fiber layer and ganglion cell layer thickness.

Implications:

• Ocular abnormalities, though infrequent, can occur in LLS and may be linked to central nervous system anomalies.
• Regular ophthalmic check-ups are crucial for children with LLS to assess visual function and prognosis.
• Early detection and management of visual impairments are vital for the overall development of children with congenital syndromes.