| Identifier |
walsh_1988_s2_c2 |
| Title |
Renal Failure in a Girl with Visual Loss |
| Creator |
Ivor S. Levy |
| Subject |
Kidney Diseases, Cystic; Papilledema; Retinitis Pigmentosa; Optic Atrophies, Hereditary; Capillary Leak Syndrome |
| History |
A 14-year old female with a 3-year history of progressive visual loss and poor night vision. Previous history significant for polydipsia and polyuria. Family history significant for parents who were first cousins. |
| Pathology |
Capillary Leak Syndrome |
| Disease/Diagnosis |
Familial juvenile nephronophthisis |
| Clinical |
VA: 6/60 OU |
| Presenting Symptom |
Progressive loss of vision; Poor night vision |
| Date |
1988 |
| References |
1. Fanconi G, Hanhost E, Albertini A von, Lichlinger E, Dolivio G, Prader A. Die familiare juvenile nephronophthise (die Idiopathinche Parenchymatose Schrumpfniere) Helv Paediatr Acta 1951:i6:l-49. 2. Waldher R, Lennert T, Weber H-P, Fodisch HJ, Scharer K. The nephronophthsis complex. Virchows Arch (Patho Anat) 1982:394:235-54. 3. Senior B, Friedmann Al, Braudo JL. Juvenile familial nephropathy with tapeto¬retinal degeneration. Am. J. Ophthalmol. 1961:625-33. 4. Loken AC, Hanssen 0, Halvorsen S, Jolster NJ. Hereditary renal dysplasia and blindness. Acta Paediatr Scand. 1961:50:177-84. 5. Maier DA and Hess JW. Familial nephropathy with retinitis pigmentosa. A new oculorenal syndrome in adults. Amer. J. Med. 1965:39:58-59. 6. Donaldson MC, Warner AA, Trompeter RS, Haycock GB and Chantler C. Familial juvenile nephronophthsis, Jeune's syndrome, and associated disorders. Archives of Disease in Childhood 1985:60:426-434. 7. Spiegel M, Gierschik P, Levine MA and Downs Jr RW. Clinical implications of guanine nucleotide-binding proteins as recepto-sflector couplers. New England J. Med. Jan3 1985:312:26-33. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Relation is Part of |
Case presented at the NANOS 1988 Walsh Session, May 7-8 |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2008. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6125wdj |
| Contributor Primary |
Levy, Ivor S. |
| Setname |
ehsl_novel_fbw |
| ID |
178105 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6125wdj |
