In autosomal dominant inheritance, just one defective gene can cause a condition. Key mechanisms: Dominant Negative: Faulty protein disrupts the normal one. Gain of Function: Mutant protein gains toxic function. Haploinsufficiency: One copy isn’t enough for normal function. Stay tuned for more !

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Autosomal dominant IRD accounts for 25-40% of cases, posing challenges due to variable phenotypes, milder forms, and later onset. Mutations are categorized as gain-of-function, dominant-negative, or haploinsufficiency. Stay tuned as we explore these mechanisms further!