Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27)

Abstract

The authors describe a six-year-old boy with cone dystrophy, mental retardation, facial dysmorphism and short neck, hands and feet in whom they found a 1:6 chromosomal translocation. This is the first description of retinal cone dystrophy and a chromosomal aberration. They hypothesize that the cone dystrophy in the patient may be assigned to 1q44 or 6q27.

Key Words:

• Erg
• Vep
• retinal degenerations
• retinal cone dysfunction
• macular dystrophy
• genetic eye disorders
• chromosomes 1 and 6
• balanced translocation