Literature DB >> 1540564

Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

M P Clarke1, T J Sullivan, C Francis, R Baumal, T Fenton, W G Pearce.   

Abstract

Two siblings with Senior-Loken syndrome are described. The need for a full evaluation of renal function and hearing in children with a retinal dystrophy is emphasised.

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Mesh：

Year:  1992        PMID： 1540564      PMCID： PMC504199          DOI： 10.1136/bjo.76.3.171

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  11 in total

1.  Hereditary renal dysplasia and blindness.

Authors:  A C LOKEN; O HANSSEN; S HALVORSEN; N J JOLSTER
Journal:  Acta Paediatr       Date:  1961-03       Impact factor: 2.299

2.  Juvenile nephronophthisis.

Authors:  P R Betts; I Forrest-Hay
Journal:  Lancet       Date:  1973-09-01       Impact factor: 79.321

3.  The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder.

Authors:  J L Goldstein; P J Fialkow
Journal:  Medicine (Baltimore)       Date:  1973-01       Impact factor: 1.889

4.  Hereditary renal-retinal dysplasia.

Authors:  R N Schimke
Journal:  Ann Intern Med       Date:  1969-04       Impact factor: 25.391

5.  Congenital amaurosis and nephrophthisis: a new syndrome.

Authors:  I E Hussels
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

6.  Sector retinitis pigmentosa in juvenile nephronophthisis.

Authors:  V Godel; A Iaina; P Nemet; M Lazar
Journal:  Br J Ophthalmol       Date:  1980-02       Impact factor: 4.638

7.  Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

Authors:  F Mainzer; R M Saldino; M B Ozonoff; H Minagi
Journal:  Am J Med       Date:  1970-10       Impact factor: 4.965

8.  Nephronophthisis. A primary tubular basement membrane defect.

Authors:  A H Cohen; J R Hoyer
Journal:  Lab Invest       Date:  1986-11       Impact factor: 5.662

9.  "Nephronophthisis-congenital hepatic fibrosis": an additional hepatorenal disorder.

Authors:  C L Witzleben; A R Sharp
Journal:  Hum Pathol       Date:  1982-08       Impact factor: 3.466

10.  Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two.

Authors:  C I Phillips; N L Stokoe; R S Bartholomew
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1979 Sep-Oct       Impact factor: 1.402
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  3 in total

1.  Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome.

Authors:  Satoshi Katagiri; Takaaki Hayashi; Kazutoshi Yoshitake; Noriyuki Murai; Zenichi Matsui; Hiroyuki Kubo; Hiroyuki Satoh; Senya Matsufuji; Tsuyoshi Takamura; Takashi Yokoo; Yoshihiro Omori; Takahisa Furukawa; Takeshi Iwata; Tadashi Nakano
Journal:  Sci Rep       Date:  2018-11-13       Impact factor: 4.379

2.  Potpourri of retinopathies in rare eye disease - A case series.

Authors:  Neelam Pawar; George J Manayath; Shishir Verghese; Prithvi Chandrakanth; Virna Shah; Ashwini Raut; Swarna Gaikwad; Parth A Patil; Mansha Daswani; R Meenakshi; Kalpana Narendran; Venkatapathy Narendran
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

3.  Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.

Authors:  Genevieve Medina; Julia Perry; Andrea Oza; Margaret Kenna
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-08-02
  3 in total

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