A 35-year-old woman consulted for poor visual acuity (VA) since childhood, without treatment. Examination revealed yellowish hair, eyebrows and eyelashes; reddish skin, no nevi; corrected visual acuity of 20/400 (-9.50 -5.50 x 135º) in the right eye (OD) and 20/200 (-6.50 -5.50 x 20º) in the left eye (OI); exotropia of 50 dioptres, horizontal nystagmus; both eyes (AO) with intraocular pressure of 12 mmHg, normal conjunctiva, cornea with some well circumscribed central and anterior whitish stromal deposits, anterior chamber without cells or flare, clear iris with transillumination, clear crystalline lens and foveal hypoplasia. Based on the ocular and systemic clinical data, the diagnoses of AOC and DG were established and the family was referred for clinical evaluation.

This is a family of nine members, with parents aged 74 and 64 years. There is no consanguinity and they come from different localities. GD is present in the mother, three siblings and their son, while AOC is present in two of the siblings but with no GD data.