Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome

Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.

Epidemiology

It has been described in three siblings.

Clinical description

The facial dysmorphism includes a narrow and squared forehead, low set and dysplastic ears, a relatively long philtrum, telecanthus, bilateral thick eyebrows and absence of bilateral lower medial eyelashes. The affected patients have no intellectual deficit.

Genetic counseling

The condition seems to be transmitted as an autosomal recessive trait.