Literature DB >> 444124

Ocular findings in Kenny's syndrome.

J R Boynton, T R Pheasant, B L Johnson, D B Levin, B W Streeten.   

Abstract

In 1966, Kenny described two patients with an unusual congenital syndrome including dwarfism, thickened long bone cortex, transient hypocalcemia, and normal intelligence. These and other patients previously were incorrectly described as "myopic". Ocular findings in four subjects ranged from uncomplicated nanophthalmos with hyperopia to extreme pseudopapilledema, vascular tortuosity, and mucular crowding. Postmortem findings from one patient showed calcium deposits demonstrable only by special histochemical stains that were distributed uniquely in the cornea. This distribution differed greatly from the pattern seen in band keratopathy. Retinal calcification was also an unusual feature. Because one patient exhibited a pseudodoubling of the optic papilla, the literature was reviewed. We conclude that no convincing case of true doubling of the optic nerve has been described. Ophthalmologists should be alert for undiagnosed electrolyte abnormalities, especially hypocalcemia, in patients with Kenney's syndrome.

Entities:  

Mesh:

Year:  1979        PMID: 444124     DOI: 10.1001/archopht.1979.01020010454012

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  7 in total

Review 1.  Genetics of endocrine and metabolic disorders: parathyroid.

Authors:  R V Thakker
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

2.  Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

Authors:  M A Sabry; M Zaki; S J Abul Hassan; D G Ramadan; M A Abdel Rasool; S A al Awadi; Q al Saleh
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

3.  The nanophthalmic macula.

Authors:  J C Serrano; P R Hodgkins; D S Taylor; G A Gole; A Kriss
Journal:  Br J Ophthalmol       Date:  1998-03       Impact factor: 4.638

4.  Kenny syndrome: description of additional abnormalities and molecular studies.

Authors:  I Bergada; A Schiffrin; H Abu Srair; P Kaplan; J Dornan; D Goltzman; G N Hendy
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

5.  FAM111A is dispensable for electrolyte homeostasis in mice.

Authors:  Barnabas P Ilenwabor; Heidi Schigt; Andreas Kompatscher; Caro Bos; Malou Zuidscherwoude; Bram C J van der Eerden; Joost G J Hoenderop; Jeroen H F de Baaij
Journal:  Sci Rep       Date:  2022-06-17       Impact factor: 4.996

6.  The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

Authors:  F Majewski; W Rosendahl; M Ranke; K Nolte
Journal:  Eur J Pediatr       Date:  1981-03       Impact factor: 3.183

7.  Optical coherence tomography findings of retinal folds in nanophthalmos.

Authors:  F Nilüfer Yalçındağ; Huban Atilla; Figen Batıoğlu
Journal:  Case Rep Ophthalmol Med       Date:  2012-01-23
  7 in total

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