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 scarring, anterior polar cataract, and nystagmus with a normal fundus in his right eye and phthisis bulbi in the left eye) suggest no relationship with the present cases.