Mutations in ARL6 gene may lead to BBS3 or RP55. The manifestations of the disorders are described below:
1) Bardet-Biedl syndrome 3:
Eye:
• Degeneration of the retina of the eye (retinitis pigmentosa), which may lead to decreased vision and night blindness.
Neurological (in some patients):
• Developmental delay
• Intellectual disability
Heart (in some patients):
• Excessive floppiness of a heart valve (i.e. tricuspid regurgitation)
• Increased of the heart muscle separating the left and right sides of the heart
Urinary system:
• Small-than-normal kidney
• Disproportionate smallness of the genitalia
Other:
• Obesity
• Increased number of fingers or toes
2) Retinitis Pigmentosa 55:
• Eye: Degeneration of the retina of the eye (retinitis pigmentosa) is the only manifestation of this disease. The onset of the disease is usually in early childhood.
ARL6