Megalocornea-intellectual disability syndrome

Megalocornea-intellectual disability syndrome (also known as Neuhauser syndrome or megalocornea-mental retardation syndrome, MMR syndrome) is an extremely rare genetic disorder characterized by the combination of bilateral megalocornea (abnormally large corneas, typically greater than 13 mm in diameter) and intellectual disability of variable severity. The condition was first described by Neuhauser and colleagues in 1975. The syndrome primarily affects the eyes and the central nervous system. Key ocular features include megalocornea, which is present from birth, and may be associated with other eye abnormalities such as iris hypoplasia, mosaic iris pattern, and occasionally lens subluxation or glaucoma. Neurological manifestations include intellectual disability ranging from mild to severe, hypotonia (reduced muscle tone), and in some cases seizures. Additional features reported in some patients include short stature, facial dysmorphism (such as frontal bossing, broad nasal bridge, and anteverted nares), and minor skeletal anomalies. There is no specific curative treatment for megalocornea-intellectual disability syndrome. Management is supportive and multidisciplinary, focusing on ophthalmological monitoring and intervention for eye complications (including intraocular pressure management if glaucoma develops), developmental support and special education services for intellectual disability, physical therapy for hypotonia, and seizure management with anticonvulsant medications when needed. Regular follow-up with ophthalmology, neurology, and developmental specialists is recommended. Genetic counseling is advised for affected families.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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