Eye abnormalities in Fryns syndrome.
Fryns syndrome is a rare, generally lethal, autosomal recessive multiple congenital anomaly (MCA) syndrome first described in 1979. Patients with the syndrome present with the classical findings of cloudy cornea, brain malformations, diaphragmatic defects, and distal limb deformities. Over 70 patients have been reported revealing a wide variety of phenotypic features. Although initially considered a major feature of Fryns syndrome, cloudy cornea has been relegated as a minor diagnostic sign and not commonly reported in patients since the original description. However, eye findings per se are not uncommon. Abnormal eye findings occasionally reported in Fryns syndrome potentially result in amblyopia and blindness, profoundly affecting neurologic outcome of those who survive the neonatal period. We reviewed 77 reported patients with Fryns syndrome and summarized the abnormal eye findings identified in 12 of the reported cases. In addition, we contribute three new patients with Fryns syndrome, one of which demonstrated unilateral microphthalmia and cloudy cornea.
Pierson
Diane M
DM
Department of Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Taboada
Eugenio
E
Butler
Merlin G
MG
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D003315:Cornea / Q000002:abnormalities*; D003318:Corneal Opacity / Q000151:congenital*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000175:diagnosis*; D011247:Pregnancy; D013577:Syndrome