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OPHTHALMIC MOLECULAR GENETICS SECTION EDITOR: JANEY L. WIGGS, MD, PhD Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome Edwin M. Stone, MD, PhD; Artur V. Cideciyan, PhD; Tomas S. Aleman, MD; Todd E. Scheetz, PhD; Alexander Sumaroka, PhD; Mary A. Ehlinger, BS; Sharon B. Schwartz, MS, CGC; Gerald A. Fishman, MD; Elias I. Traboulsi, MD; Byron L. Lam, MD; Anne B. Fulton, MD; Robert F. Mullins, PhD; Val C. Sheffield, MD, PhD; Samuel G. Jacobson, MD, PhD Objective: To investigate whether mutations in NPHP5 renal disease in the first decade of life. Two patients were can cause Leber congenital amaurosis (LCA) without diagnosed with nephronophthisis in the second decade. early-onset renal disease. Retinal imaging studies showed retained photoreceptor nuclei and retinal pigment epithelium integrity mainly Methods: DNA samples from 276 individuals with non- in the cone-rich central retina, a phenotype with strong syndromic LCA were screened for variations in the NPHP5 similarities to that of NPHP6 disease. gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease- Conclusions: Mutations in NPHP5 can cause LCA with- causing genotype. out early-onset renal disease. Abnormalities observed in the photoreceptor outer
JAMA Ophthalmology – American Medical Association
Published: Jan 1, 2011
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