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Retinitis pigmentosa (RP) patients typically become blind after a period of years in which their eye sight slowly deteriorates due to photoreceptor degeneration. Generally RP patients develop night-blindness first, then tunnel vision, after which finally the central eye sight diminishes leaving them with basically no eye sight, barred some crude residual light perception. The wiki page on RP has more information when needed. Typically, the process from diagnosis of RP to (near) complete loss of eye sight takes years to decades.

However, Chebat et al. (2007) make mention that their study group, consisting of congenitally blind subjects, includes one person with RP (see table 1 in the linked article). Hence, this implicates that this particular subject was blind from birth due to effects of RP.

Is anyone familiar with newborns blinded by the effects of RP?

Reference
Chebat et al. Neuroreport 2007;18:1901-4

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  • $\begingroup$ Just to be sure I understand the question, you're looking for case studies on a neonate that has already had a near total loss (or total loss) of vision from RP? I'm not sure it would be diagnosed as RP at that point. $\endgroup$
    – Atl LED
    Commented Mar 17, 2015 at 14:02
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    $\begingroup$ Can you link this article? $\endgroup$
    – Chris ♦
    Commented Mar 17, 2015 at 14:50
  • $\begingroup$ @AtlLED - correct, I am searching for evidence of congenitally blind folks due to RP. $\endgroup$
    – AliceD ♦
    Commented Mar 17, 2015 at 22:40
  • $\begingroup$ @Chris - I linked the full-text article. $\endgroup$
    – AliceD ♦
    Commented Mar 17, 2015 at 23:11
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    $\begingroup$ Thank you for linking the article. I think I now understand where this question is coming from. Was this prompted by Table 1? Because even if RP is not showing symptoms at an early age, you are still "born with it." As a genetic disorder, you are almost always going to see onset written as birth. $\endgroup$
    – Atl LED
    Commented Mar 18, 2015 at 12:26

1 Answer 1

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I have only ever heard of one case where RP caused blindness in a newborn. Unfortunately, I am unable to release the name or any details of the patient because of privacy issues and so forth.

Usually blindness from RP comes after a few years of life (as you said), making blindness from birth (or even early infancy) very rare.

I can tell you, however, that the formerly stated patient suffered from type I Usher Syndrome, if I remember correctly. I apologize for my inability to provide you with more specific details on this.

I don't know how much this will help in your search, but I sincerely hope that it does.

CDB

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  • $\begingroup$ Perhaps I shouldn't ask new questions, but just to verify - is Usher's syndrome characterized by RP (i.e., is RP a symptom of Usher so to speak?) or is Usher's characterized as a syndrome with vision loss due to mechanisms related (but different) from RP? Thanks for your answer. $\endgroup$
    – AliceD ♦
    Commented Mar 17, 2015 at 22:46
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    $\begingroup$ No problem, I'm happy to help. You are correct, RP is a "symptom" of Usher syndrome. Usher syndrome is a combination of hearing loss (usually due to a defective inner ear) and, of course, vision loss, which is due to RP. $\endgroup$
    – CDB
    Commented Mar 17, 2015 at 23:10
  • $\begingroup$ Just to verify - this observation has never been published by any chance? Interesting observations ! :) $\endgroup$
    – AliceD ♦
    Commented Mar 18, 2015 at 12:39
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    $\begingroup$ I don't believe this case specifically has ever been published. I have been searching for a similar article for a while because your question intrigued me so much (no doubt because of my past experiences with this patient), but so far I have found nothing. I am very sorry I cannot present you with even a name, as it is completely available to me, but, as I said earlier, certain privacy issues stand in my way. I will keep searching for an article that studies these observations. $\endgroup$
    – CDB
    Commented Mar 18, 2015 at 15:42

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