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Retinal Dystrophies

Retinitis pigmentosa

It is the most common retinal dystrophy.

Melanin deposits (bone spicule) occur around retinal vessels.

Progressive progression begins at age 30 and continues slowly for years.

There are annular scotomas and tube vision in the visual field.

Night vision is impaired.

It can be seen together with Usher syndrome, Kearn Sayre syndrome, Cockayne syndrome and Refsum's disease.


Albinism

eye findings:

Foveal hypoplasia is seen with the absence of vessels of the foveal cupping.

Visual acuity is usually less than 6/60 due to foveal hypoplasia.

Nystagmus is typically pendular and horizontal.

The iris is translucent giving the appearance of a pink eye. 

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