Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

✍ Scribed by Ravine, David; Ragge, Nicola K.; Stephens, Dafydd; Oldridge, Michael; Wilkie, Andrew O. M.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 50 KB
• Volume: 72
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19971017)72:2<227::aid-ajmg19>3.0.co;2-p

✦ Synopsis

Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression is evident and more recently recognized manifestations include a complete spectrum of eye involvement, impairment of extraocular movement, mid-frequency sensorineural hearing loss, and hematuria. Learning difficulties requiring remedial teaching were present in one third of those affected and a neural tube defect has occurred in one presumed affected member. This family appears to present a unique phenotype, which provides an opportunity to identify a genetic locus involved in eye, ear, renal, primary palate, and brain development.