Aloha to all! This is my very first attempt at actual blogging. Previous notes on fb and Myspace don't really count. This is where I will pour out my feelings, share information, publish personal research, and post prayer requests with regards to Retinal Dystrophy. Why write about such a rare, incurable, degenerative disease? My 11 year old son Gabriel was recently diagnosed. This has been a life changing, faith testing revelation. He is a courageous boy, and we are going to get through this together, no matter what the outcome. This first post is an overview of Cone-Rod Retinal Dystrophy.
Cone-Rod Retinal Dystrophy
What is Cone-Rod Retinal Dystrophy?
Cone-rod retinal dystrophy (CRD) characteristically leads to early impairment of vision.
What are the symptoms?
An initial loss of colour vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina.
The onset of decreased central vision with concurrent progressive constriction of peripheral visual fields occurs prior to age 10. Unlike other cone dystrophies, there is an inexorable progression to no light perception.
Evans et al. (1995) reported on the clinical features of 34 affected members in 4 generations. Loss of visual acuity occurred in the first decade of life, onset of night blindness occurred after 20 years of age, and little visual function remained after the age of 50 years. Central and, later, peripheral retinal fundus changes were associated with central scotoma, pseudoaltitudinal field defects, and finally, global loss of function. Psychophysical and electrophysiologic testing before the age of 26 years showed more marked loss of cone than of rod function.
When is it transmitted?
Typically, Cone-Rod Retinal Dystrophy is diagnosed following a loss of visual acuity and progressive constriction of peripheral vision before the age of 10."
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I really feel very sad to hear the state of your lovely son as my kid also is suffering from something similiar. I pray to the almighty for a miracle to happen.
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