Literature DB >> 6983472

Classification of complete and incomplete autosomal recessive achromatopsia.

J Pokorny, V C Smith, A J Pinckers, M Cozijnsen.   

Abstract

We studied color vision in 32 patients with autosomal recessive achromatopsia. Color matching revealed complete achromatopsia (rod monochromasy) in ten patients (Group I) and incomplete achromatopsia in the remaining twenty-two patients. Amongst the incomplete achromats, were three groups distinguishable by their color matching. Patients in Group II were dichromats; their color matches were mediated by rods and MWS (middle-wavelength sensitive) cones. Patients in Groups III and IV were trichromats. Color matches of patients in Group III were mediated by rods, LWS (long-wavelength sensitive) cones and MWS cones. Group III patients showed no evidence of SWS (short-wavelength sensitive) cones. Color matches of patients in Group IV were mediated by rods, LWS cones and SWS cones; color matching did not reveal MWS cones.

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Year:  1982        PMID: 6983472     DOI: 10.1007/BF02152296

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN: 0721-832X            Impact factor:   3.117


  16 in total

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Authors:  V C Smith; J Pokorny; F W Newell
Journal:  Ophthalmologica       Date:  1978       Impact factor: 3.250

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Authors:  V C Smith; J Pokorny; F W Newell
Journal:  Am J Ophthalmol       Date:  1979-03       Impact factor: 5.258

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Authors:  J Pokorny; V C Smith; L N Went
Journal:  J Opt Soc Am       Date:  1981-11

9.  X-linked incomplete achromatopsia with more than one class of functional cones.

Authors:  V C Smith; J Pokorny; J W Delleman; M Cozijnsen; W A Houtman; L N Went
Journal:  Invest Ophthalmol Vis Sci       Date:  1983-04       Impact factor: 4.799

10.  Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden.

Authors:  S Nordström; W Polland
Journal:  Hum Hered       Date:  1980       Impact factor: 0.444

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  16 in total

Review 1.  [Achromatopsia].

Authors:  C M Poloschek; S Kohl
Journal:  Ophthalmologe       Date:  2010-06       Impact factor: 1.059

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Authors:  A Pinckers
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Review 3.  Gene replacement therapy for retinal CNG channelopathies.

Authors:  Christian Schön; Martin Biel; Stylianos Michalakis
Journal:  Mol Genet Genomics       Date:  2013-07-17       Impact factor: 3.291

4.  Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.

Authors:  Shinji Ueno; Ayami Nakanishi; Akira Sayo; Taro Kominami; Yasuki Ito; Takaaki Hayashi; Kazushige Tsunoda; Takeshi Iwata; Hiroko Terasaki
Journal:  Doc Ophthalmol       Date:  2017-02-14       Impact factor: 2.379

5.  Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish.

Authors:  I A Viringipurampeer; X Shan; K Gregory-Evans; J P Zhang; Z Mohammadi; C Y Gregory-Evans
Journal:  Cell Death Differ       Date:  2014-01-10       Impact factor: 15.828

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Authors:  D van Norren; E C de Vries-de Mol
Journal:  Doc Ophthalmol       Date:  1981-11       Impact factor: 2.379

7.  Essential night blindness with cone monochromasy.

Authors:  A J Pinckers; J Pokorny; V C Smith; D van Norren
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

8.  Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.

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Journal:  JAMA Ophthalmol       Date:  2014-07       Impact factor: 7.389

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Journal:  Br J Ophthalmol       Date:  2004-02       Impact factor: 4.638

Review 10.  Function and dysfunction of CNG channels: insights from channelopathies and mouse models.

Authors:  Martin Biel; Stylianos Michalakis
Journal:  Mol Neurobiol       Date:  2007-06       Impact factor: 5.590

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