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Results 1 - 10 of 14 for ophthalmology
  1. Vitelliform macular dystrophy 
    ... best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005 Apr;112(4):586-92. doi: 10. ... age-related maculopathy, and bull's-eye maculopathy. Ophthalmology. 2001 Nov;108(11):2060-7. doi: 10. ...
    https://medlineplus.gov/.../condition/vitelliform-macular-dystrophy - Genetics
  2. Bradyopsia 
    ... vision): clinical features and course of the disease. Ophthalmology. 2007 Dec;114(12):2323-31. doi: 10. ... in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). Ophthalmology. 2010 Jan;117(1):120-127.e1. doi: ...
    https://medlineplus.gov/genetics/condition/bradyopsia - Genetics
  3. Fundus albipunctatus 
    ... albipunctatus associated with compound heterozygous mutations in RPE65. Ophthalmology. 2011 May;118(5):888-94. doi: 10. ... AR. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). Ophthalmology. 2011 Aug;118(8):1661-70. doi: 10. ...
    https://medlineplus.gov/genetics/condition/fundus-albipunctatus - Genetics
  4. X-linked infantile nystagmus 
    ... Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10. ...
    https://medlineplus.gov/.../condition/x-linked-infantile-nystagmus - Genetics
  5. Optic atrophy type 1 
    ... of dominant optic atrophy due to OPA1 mutations. Ophthalmology. 2010 Aug;117(8):1538-46, 1546.e1. ...
    https://medlineplus.gov/genetics/condition/optic-atrophy-type-1 - Genetics
  6. Gyrate atrophy of the choroid and retina 
    ... retina harboring the L402P mutation of ornithine aminotransferase. Ophthalmology. 2001 Apr;108(4):721-9. doi: 10. ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  7. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology. 2004 Jul;111(7):1415-23. doi: 10. ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  8. Retinoblastoma 
    ... BL. Prenatal versus Postnatal Screening for Familial Retinoblastoma. Ophthalmology. 2016 Dec;123(12):2610-2617. doi: 10. ...
    https://medlineplus.gov/genetics/condition/retinoblastoma - Genetics
  9. Achromatopsia 
    ... and clinical consequences of complete and incomplete achromatopsia. Ophthalmology. 2009 Oct;116(10):1984-9.e1. doi: ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  10. Renal coloboma syndrome 
    ... J, Uteza Y, Dufier JL. Renal coloboma syndrome. Ophthalmology. 2001 Oct;108(10):1912-6. doi: 10. ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
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