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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد

Implications RPE65 pathogenic or likely pathogenic variant

Implications RPE65 pathogenic or likely pathogenic variant
Clinical consideration Implications for management
Autosomal recessive inheritance
  • Individuals who are heterozygous for a pathogenic variant in RPE65 are unaffected carriers.
  • Individuals who have biallelic pathogenic variants in RPE65 are at risk for RP and LCA.
Visual deficits
  • Night blindness
  • Peripheral vision loss
  • Decreased visual acuity
  • Management should involve an individual with expertise in retinal disorders.
  • Gene therapy may be an option for individuals who have biallelic pathogenic variants in RPE65 and viable retinal cells.
  • Experimental therapies such as retinal stem cell transplantation or electronic retinal prostheses may be an option for some individuals.
Cataracts
  • Cataract extraction may improve vision.
Macular edema
  • An oral or topical carbonic anhydrase inhibitor may improve vision.
Counseling and testing of close relatives*
  • Counseling and testing of close relatives is appropriate, with cascade testing.*
    • Parents of an individual with RP or LCA due to biallelic pathogenic variants in RPE65 are likely obligate carriers.
    • Siblings of an individual with RP or LCA due to biallelic pathogenic variants in RPE65 have a 25% chance being affected and a 50% chance of being carriers.
Refer to UpToDate for the evaluation and management of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA).

LCA: Leber congenital amaurosis; RP: retinitis pigmentosa.

* Testing typically starts with first-degree relatives (parents, siblings, children). Cascade testing involves identifying the first-degree relatives that carry the pathogenic variant(s) and then testing of their first-degree relatives.
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