Familial absence of lacrimal puncta associated with preauricular sinuses.
Previously reported cases of lacrimal outflow dysgenesis have frequently been associated with developmental anomalies or systemic syndromes, raising potential red flags in affected children. We report an unusual case of familial punctal atresia with apparent genetic linkage to bilateral preauricular sinuses without any such comorbid syndromic features.
Saltzmann
Robert M
RM
Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, 60611, USA.
Lissner
Gary S
GS
D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D007766:Lacrimal Apparatus Diseases / Q000235:genetics*; D008297:Male; D013666:Tears / Q000378:metabolism