Literature DB >> 1995042

Flecked retina associated with ring 17 chromosome.

S J Charles1, A T Moore, B C Davison, H M Dyson, L Willatt.   

Abstract

We report the case of a mentally retarded male with a ring 17 chromosome who had subretinal drusen-like deposits in each eye. This is the second report of flecked retina in a patient with ring 17 chromosome, suggesting that there may be a causal relationship between abnormalities of chromosome 17 and retinal pigment epithelial or photoreceptor dysfunction.

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Year:  1991        PMID： 1995042      PMCID： PMC504131          DOI： 10.1136/bjo.75.2.125

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


  9 in total

1.  Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

Authors:  V M Riccardi; E Sujansky; A C Smith; U Francke
Journal:  Pediatrics       Date:  1978-04       Impact factor: 7.124

2.  Ophthalmic manifestations of neurofibromatosis.

Authors:  S Huson; D Jones; L Beck
Journal:  Br J Ophthalmol       Date:  1987-03       Impact factor: 4.638

3.  Fundus changes in (type II) mesangiocapillary glomerulonephritis simulating drusen: a histopathological report.

Authors:  J Duvall-Young; M K MacDonald; N M McKechnie
Journal:  Br J Ophthalmol       Date:  1989-04       Impact factor: 4.638

Review 4.  Retinal pigment epithelial detachments in the elderly.

Authors:  A C Bird; J Marshall
Journal:  Trans Ophthalmol Soc U K       Date:  1986

5.  Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.

Authors:  D Barker; E Wright; K Nguyen; L Cannon; P Fain; D Goldgar; D T Bishop; J Carey; B Baty; J Kivlin
Journal:  Science       Date:  1987-05-29       Impact factor: 47.728

6.  Retinoblastoma and subband deletion of chromosome 13.

Authors:  J J Yunis; N Ramsay
Journal:  Am J Dis Child       Date:  1978-02

7.  Choroideremia in interstitial deletion of the X chromosome.

Authors:  T Rosenberg; M Schwartz; E Niebuhr; H M Yang; H Sardemann; O Andersen; C Lundsteen
Journal:  Ophthalmic Paediatr Genet       Date:  1986-12

8.  New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

Authors:  R F Stratton; W B Dobyns; S D Airhart; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Bilaterality of drusen.

Authors:  M Barondes; D Pauleikhoff; I C Chisholm; D Minassian; A C Bird
Journal:  Br J Ophthalmol       Date:  1990-03       Impact factor: 4.638
  9 in total
  2 in total

1.  Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Authors:  Arundhati Dev Borman; Aleksandra Rachitskaya; Martina Suzani; Robert A Sisk; Zubair M Ahmed; Graham E Holder; Valentina Cipriani; Gavin Arno; Andrew R Webster; Robert B Hufnagel; Audina Berrocal; Anthony T Moore
Journal:  Ophthalmology       Date:  2017-03-31       Impact factor: 12.079

2.  Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Authors:  Antonietta Coppola; Deborah Morrogh; Fiona Farrell; Simona Balestrini; Laura Hernandez-Hernandez; S Krithika; Josemir W Sander; Jonathan J Waters; Sanjay M Sisodiya
Journal:  Mol Syndromol       Date:  2017-09-15
  2 in total

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