Colobomatous cyst of the orbit is a rare malformation associated with microphthalmic globe or asymmetrically large globe. Usually, it appears since birth without any sex predilection and can affect one globe or rarely both the globes. A coloboma is a gap or defect in the globe resulting from the failure of the choroidal fissure to close. A coloboma may be an isolated finding or a part of a comp...

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%) w...

Congenital colobomata of the eye are important causes of childhood visual impairment and blindness. Ocular coloboma can be seen in isolation and in an impressive number of multisystem syndromes, where the eye phenotype is often seen in association with severe neurological or craniofacial anomalies or other systemic developmental defects. Several studies have shown that, in addition to inheritan...

A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively, improving to 20/40 with -4.5 DS/-3.0 DC x 10° correction in the right eye and 20/80 with -10.0 DS/-6.5 Dc x10° correction in the left eye. On...

Microphthalmos occupies a spectrum from a normal, but small globe, to a globe with multiple anterior and posterior segment abnormalities. This study examines 54 eyes of 27 patients who had bilateral microphthalmos and severe visual impairment or blindness. Congenital cataract was the commonest cause of severe visual impairment (44%), followed by presumed retinal or optic nerve dysplasia (30%) a...

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%) ...

A dermo-lipoma is a congenital lesion (Reese, I963). There is no indication that epibulbar dermoids are hereditary in man (Francois, 196I; Waardenburg, Franceschetti, and Klein, I96I). Goldenhar (I952) and Duke-Elder (I964) have pointed out that dermoids and dermo-lipomata often accompany other congenital abnormalities, including auricular appendages, fistula auris congenita, coloboma of the ir...

A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves...