AIMS To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India. METHODS Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined. RESULTS 56 probands, 25 females (44.6%) and 31 males (57.4%) ...

We ascertained three different families affected with oto-dental syndrome, a rare but severe autosomal-dominant craniofacial anomaly. All affected patients had the unique phenotype of grossly enlarged molar teeth (globodontia) segregating with a high-frequency sensorineural hearing loss. In addition, ocular coloboma segregated with disease in one family (oculo-oto-dental syndrome). A genome-wid...

PURPOSE To describe a case of congenital unilateral giant coloboma and its successful surgical repair with 33 years of follow-up. CASE REPORT A 6-year-old boy presented with a congenital unilateral giant coloboma of the right upper eyelid associated with madarosis of the eyebrows, microphthalmos, dystopia of the hair, and coloboma of the apex of the nose. The patient underwent surgical repair...

PURPOSE Microphthalmia, anophthalmia, and coloboma are ocular malformations with a significant genetic component. Rx is a homeobox gene expressed early in the developing retina and is important in retinal cell fate specification as well as stem cell proliferation. We screened a group of 24 patients with microphthalmia, coloboma, and/or anophthalmia for RX mutations. METHODS We used standard P...

Lens coloboma is a developmental defect resulting from abnormalities of the zonules and ciliary body. It may present as an isolated pathology or be accompanied by anomalies in different ocular structures. We report case 20-year-old man referred for evaluation anisometropic amblyopia right eye. Manifest refraction was −2.25 +3.00 ×35 eye; corrected distance visual acuity, 20/50. Corneal topograp...

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.

AIMS To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF. METHODS Five members of a three generation pedigree with progressive cataracts underwent detailed ophthalmic examination to characterise associated ocular phenotypic features. RESULTS The cataracts...

The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to...

A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion syndromes, yet the character, prevalence, and extent of these anomalies are not well defined. Identification of these ocular anomalies can be central to providing diagnoses and facilitating optimal individual patient management. We report a child with a 14q32.31 terminal deletion and ring chromosome ...