Cone Cell - Diseases

Diseases

One of the diseases related to cone cells present in retina is retinoblastoma. Retinoblastoma is a rare, cancerous tumour the retina, which usually occur in the early childhood caused by the mutation of both copies of retinoblastoma genes (RB1). One or both eyes may be affected. The protein encoded by RB1 regulates a signal transduction pathway while controlling the cell cycle progression as normally. Retinoblastoma seems to originate in cone precursor cells present in the retina that consist of natural signalling networks which restrict cell death and promote cell survival after losing the RB1. It has been found that TRβ2 which is a transcription factor specifically affiliated with cones is essential for rapid reproduction and existence of the retinoblastoma cell. A drug that can be useful in the treatment of this disease is MDM2 (murine double minute 2) gene.

The pupil may appear white or have white spots. A white glow in the eye is often seen in photographs taken with a flash, instead of the typical "red eye" from the flash, and the pupil may appear white or distorted. Other symptoms can include crossed eyes, double vision, eyes that do not align, eye pain and redness, poor vision or differing iris colours in each eye. If the cancer has spread, bone pain and other symptoms may occur.