Achondroplasia and macular coloboma

Macular coloboma and skeletal abnormality.

Of the other members of the family only the patients' mother was examined clinically by us and no abnormality was found. She gave a clear account of the large family on her own and her husband's side and mentioned only one individual with an abnormality: this was the blind child of a paternal aunt of the propositi who married a full cousin. However, the findings of his ophthalmologist (corneal ...

Hereditary macular coloboma.

A Case of Chorioretinal Coloboma in a Patient with Achondroplasia

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental de...

[Atypical macular coloboma: a case report].

CLINICAL CASE This was a 15-month-old boy who had macular retinochoroidal lesions in both eyes following maternal varicella during pregnancy. DISCUSSION The scars were suggestive of congenital chorioretinal infection, but because of negative serology and the clinical picture, we believe the problems are atypical macular colobomata.

Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy.

A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina. The Toxoplasma IgG antibody was negative. The diagnosis of bilateral macular coloboma with pigmented paravenous retinochoroidal atrophy was made and seemed to be a developmental abnormality in origin.