White sponge naevus occurred in association with coloboma of the iris in six members of one family, across three generations. The association of these two dominantly inherited conditions has not to our knowledge previously been described.

An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.

purpose: to evaluate the outcomes and complications of phacoemulsification and posterior chamber intraocular lens implantation (pe+pciol) in patients with congenital iris coloboma. methods: in a prospective noncomparative interventional case series, 13 eyes of 9 patients (six female and three male) with congenital iris coloboma and cataract underwent pe+pciol using clear corneal incision and in...

Recently, mycophenolate mofetil (MMF) has been introduced in the immunosuppressive strategy after kidney transplantation. Recently, the existence of a MMF associated embriopathy has been hypothesized, namely, multiple craniofacial malformations. Only 1 report has described chorioretinal coloboma. We report a case of woman who used MMF throughout pregnancy after kidney transplantation. Her newbo...

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with al...

EDITOR,—Doubling of the optic disc is rare and can manifest as true or pseudo doubling. A 64 year old man was referred by his physician who noted “a clear area between each optic disc on both sides” during a routine check. Visual acuities and anterior segments were normal. Funduscopy revealed an appearance simulating double optic discs on each side. The right eye showed a 2 disc diameter (DD) s...