PURPOSE Macular schisis or detachment is frequently observed in eyes with optic pits or colobomas. Although spontaneous resolution of the maculopathy has been reported, concurrent changes in the optic nerve coloboma have not. We report three cases of atypical optic nerve colobomas in which dynamic optic nerve changes coincide with the development and subsequent resolution of the associated macu...

THIS case of a coloboma of the optic nerve entrance is recorded because of the great scarcity of previous histological reports. Only very rarely is a coloboma found to be restricted to the optic nerve entrance (Duke-Elder, 1964); the great majority affect the adjacent choroid as well. Many of the early reports concerned eyes from animals or from anencephalic stillborn infants. These as well as ...

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...

Hyperkinesis and developmental behavioral deficiencies are cardinal signs of attention-deficit hyperactivity disorder. In mice, the mutation coloboma (Cm) corresponds to a contiguous gene defect that results in phenotypic abnormalities including spontaneous hyperactivity, head-bobbing, and ocular dysmorphology. In addition, coloboma mutant mice exhibit delays in achieving complex neonatal motor...

CHOROIDAL NEVUS Choroidal nevus (Figure 1), the most common primary intraocular tumor,1 is a benign tumor that arises from melanocytic cells derived from the neural crest. Choroidal nevi are more common in white people, with 4% of the population having at least one.1 Malignant transformation into melanoma is possible; therefore, choroidal nevi should be monitored even though the rate is 1 in 4,...

Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies between patients, and in some cases, renal hypoplasia has been found in the absence ...

The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital t...

FGF signaling plays a pivotal role in eye development. Previous studies using in vitro chick models and systemic zebrafish mutants have suggested that FGF signaling is required for the patterning and specification of the optic vesicle, but due to a lack of genetic models, its role in mammalian retinal development remains elusive. In this study, we show that specific deletion of Fgfr1 and Fgfr2 ...

To cite: Holla A, Gonsalves SRJ, Lobo GJ. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-202425 DESCRIPTION A 15-year-old girl was referred to our ophthalmology unit for poor vision in the left eye. She was a diagnosed case of Treacher Collin syndrome (figure 1) and was surgically treated for microtia of the left ear (figure 2). On referral she reported of ...