Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.
Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all. Additionally, the clear front covering of the eye (the cornea) may be cone-shaped and abnormally thin, a condition known as keratoconus.
A specific behavior called Franceschetti’s oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Researchers suspect that this behavior may contribute to deep-set eyes and keratoconus in affected children.
In rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. However, researchers are uncertain whether these individuals actually have Leber congenital amaurosis or another syndrome with similar signs and symptoms.
At least 13 types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
How to calculate phenotype frequency:
How to solve probability problems in genetics:
How to calculate probability of the specific phenotype:
How to calculate probability of inheritance of recessive genetic disorder:
Simple probability problem and solution:
How to Calculate Species Extinction Probability:
How to use forked-line method to solve probability problems in Genetics:
How to solve probability problems in Genetics:
How to solve DNA sequence probability problems:
When we have to sum probabilities and when we have to multiply them:
DNA sequence combinatorics problem:
ABO blood group allele frequency brain teasing problem:
Interesting probability problem (Genetics):
How to Find a Variance of the Population:
ABO Blood groups, Rh - Factor and Forked Line Probability Calculations Explained:
How to solve simple probability problems:
#pedigree #Genetics #desease #geneticDisorder #inheritance #PedigreeAnalysis #pedigreeAnalysisPractice #pedigreeAnalysisGenetics #pedigreeAnalysisProbability #pedigreeAnalysisAnswers #pedigreeCharts #HowToSolvePedigreeProblems #solvePedigreeProblems #solvingPedigreeProblems #pedigreeProblemsAndSolutions #howToAnalyzePedigree #analyzingPedigree #geneticsProblems
1 view
77
13
1 day ago 00:01:03 2
The Who - I Can’t Explain | Main Riff Guitar Lesson + TAB
1 day ago 00:02:16 1
Baseball 9 Hack/MOD APK iOS & Android - How to Get Baseball 9 Free Gems, Coins, Recruit Tickets
1 day ago 00:04:15 3
Ronan Keating - When You Say Nothing At All (Lyrics)
2 days ago 00:18:05 1
US Using Israel to Provoke Iran War, Deny Responsibility, Minimize Retaliation
2 days ago 00:16:09 20
No Comms BOUT! | Jena Bishop v Elina Kallionidou | Full Fight | Bellator 291
2 days ago 02:07:57 1
Shocking Truck Crashes Caught On Camera You Have To See To Believe
3 days ago 00:02:10 1
Baseball 9 Hack/MOD APK iOS & Android - How to Get Baseball 9 Free Gems and Coins
3 days ago 00:10:06 1
The Crazy Billionaire Funding Israel’s War
3 days ago 00:10:50 1
Invincible: Iran’s one-of-a-kind missile launch system (nuclear-strike proof)
5 days ago 00:03:09 67
ALLDAY PROJECT - ‘FAMOUS’ M/V
5 days ago 00:03:33 6
Biohazard - Forsaken - Official Music Video
1 week ago 01:40:03 1
The Panama Papers
1 week ago 00:06:27 1
How to increase followers on Instagram🚀Free Instagram Followers❤️(Working 100%✅)
1 week ago 00:00:26 1
Killer Blues Solo in 30 Seconds!
1 week ago 00:02:01 1
I 3D printed myself and I can’t stop laughing 🤣 #shorts
1 week ago 00:33:09 1
How Street Food Noodles Are Made From Scratch!
1 week ago 00:00:31 1
Dancing Together 190 😍🌹 #dance #dancevideo #enjoy #apt
1 week ago 00:02:37 1
4K Digital Microscope with LCD Screen – See the Invisible! 🔬| Best Microscope for Hobby & Work
1 week ago 00:04:01 2
Sophie Zelmani ~ Stay with my heart
2 weeks ago 00:03:43 1
This Printer Cuts Stickers by Itself?! Meet PixCut S1 – Your DIY Sidekick Just Got Smart! - YouTube
2 weeks ago 00:03:56 1
Residential Proxy : Secrets You MUST Know! | Proxy4U!
2 weeks ago 00:02:47 10
ENHYPEN (엔하이픈) ’Bad Desire (With or Without You)’ Official MV
2 weeks ago 00:04:13 1
Sia - Bird Set free (Music Video Sora)
2 weeks ago 01:52:19 1
The Agenda: Their Vision - Your Future (2025) | Full Documentary (4K)