Literature DB >> 3703486

Cohen syndrome with bull's eye macular lesion.

K Resnick, J Zuckerman, E Cotlier.   

Abstract

The Cohen syndrome is an autosomal recessive disorder which is characterized by hypotonia, obesity, mental deficiency, and facial, oral and ocular anomalies. During a twelve-year period of observation, the authors' patient manifested pigmentary retinal degeneration and a bull's eye macular lesion. The Cohen syndrome must be included in the differential diagnosis of syndromes with retinitis pigmentosa.

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Year:  1986        PMID: 3703486     DOI: 10.3109/13816818609058036

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  3 in total

1.  The ophthalmic findings in Cohen syndrome.

Authors:  K E Chandler; S Biswas; I C Lloyd; N Parry; J Clayton-Smith; G C M Black
Journal:  Br J Ophthalmol       Date:  2002-12       Impact factor: 4.638

2.  Growth hormone deficiency in a girl with the Cohen syndrome.

Authors:  G Massa; L Dooms; M Vanderschueren-Lodeweyckx
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

3.  Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.

Authors:  Vincent Lhussiez; Elisabeth Dubus; Quénol Cesar; Niyazi Acar; Emeline F Nandrot; Manuel Simonutti; Isabelle Audo; Eléonore Lizé; Sylvie Nguyen; Audrey Geissler; André Bouchot; Muhammad Ansar; Serge Picaud; Christel Thauvin-Robinet; Laurence Olivier-Faivre; Laurence Duplomb; Romain Da Costa
Journal:  Invest Ophthalmol Vis Sci       Date:  2020-09-01       Impact factor: 4.799

  3 in total

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