Familial Juvenile Nephronophthisis (Medullary Cystic Disease) 4
General: Number of closely related renal disorders are associa 323f54d ted with tapetoretinal degeneration; cause unknown.
Ocular: Retinitis pigmentosa; night blindness; progressive constriction of peripheral fields; retinal arterioles narrowed; yellow pigment deposits present throughout retina; macular degeneration.
Clinical: Renal disorders; polydipsia; polyuria.
Cohen AH, Hoyer JR. Nephrophthisis: a primary tubular basement membrane defect. Lab Invest J 1986; 564-572.
Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.
Godel V, et al. Congenital Leber amaurosis, keratoconus, and mental retardation in familial juvenile nephronophthisis. J Pediatr Ophthalmol Strabismus 1978; 15:89-91.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Parotid Aplasia or Hypoplasia (Salivary Gland Absence; Lacrimal Puncta Absence) General: Autosomal dominant. Ocular: [...] |
Partial Trisomy 16q Syndrome G [...] |
Granuloma Annulare [...] |
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