Marfan-like syndrome with lens involvement. Hyaloideoretinal degeneration with anterior chamber angle, facial, dental, and skeletal anomalies.
An autosomal dominant syndrome with Marfan-like features was found in a black pedigree. Eye findings included cataract, lens colobomas, dislocated lenses, myopia, hyaloideoretinal degeneration, and abnormalities of the anterior chamber angles. Facial and dental anomalies included slightly underdeveloped bridge of the nose, protruding maxilla, and dental malocclusions. Selected members of this pedigree showed dolichestenomelia or arachnodactyly or both. Good visual prognosis resulted after (1) cataract or dislocated lens surgery and (2) prophylactic therapy of retinal holes and degeneration.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000867:Anterior Chamber / Q000002:abnormalities; D044383:Black People; D002386:Cataract / Q000150:complications; D002648:Child; D003103:Coloboma / Q000150:complications; D005128:Eye Diseases / Q000150:complications; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007908:Lens, Crystalline; D008297:Male; D008310:Malocclusion / Q000150:complications; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics; D008437:Maxilla / Q000002:abnormalities; D008875:Middle Aged; D009216:Myopia / Q000150:complications; D009667:Nose Deformities, Acquired / Q000150:complications; D010375:Pedigree; D011378:Prognathism / Q000150:complications; D012162:Retinal Degeneration / Q000150:complications*; D012163:Retinal Detachment / Q000150:complications