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Analysis of institutional authors

Peralta, JesusAuthorAbelairas, JoseAuthor
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Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders

Publicated to:OPHTHALMIC GENETICS. 33 (2): 116-118 - 2012-06-01 33(2), DOI: 10.3109/13816810.2011.626012

Authors: Pastora, Natalia; Peralta, Jesus; Canal-Fontcuberta, Irene; Grabowska, Anna; Pulido, Jose S; Abelairas, Jose; Armada, Felix; Garcia-Alix, Alfredo

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Hospital Universitario La Paz - Author

Abstract

Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare malformative inherited disorder that can be associated with other systemic features. Other ocular and brain anomalies rather than microcephaly and chorioretinal dysplasia have been inconstantly reported in this syndrome.We present a case of microcephaly-lymphedema-chorioretinal dysplasia with a dysmorphic facies, hypertonicity in the extremities and neuropsychomotor delay. Ophthalmological examination revealed bilateral nystagmus, microphthalmia, posterior subcapsular cataratacts, extensive chorioretinal dysplasia, optic nerve aplasia, persistent fetal vasculature, and absent retinal vessels.Magnetic resonance revealed pachymicrogyria and discrete atrophy of vermis cerebelosum and confirmed optic nerve hypoplasia.The developmental alterations observed in the retina of this patient could be analogous to central nervous system anomalies, reflecting a reduction in neural population. Ophthalmic examination of children with microcephaly is warranted.

Keywords
Cerebellar vermis atrophyChorioretinal dysplasiaDeletionsFamilyLymphedemaMicrocephalyMutationsNeuronal migration disorderOptic nerve hipoplasiaPachymicrogyriaPatientPhenotypeRearrangementsRetardationSequences

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal OPHTHALMIC GENETICS due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2012, it was in position , thus managing to position itself as a Q2 (Segundo Cuartil), in the category Pediatrics, Perinatology and Child Health. Notably, the journal is positioned en el Cuartil Q3 for the agency WoS (JCR) in the category Ophthalmology.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-05-03:

  • WoS: 4
  • Scopus: 4
  • Europe PMC: 3
  • OpenCitations: 4
Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-03:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 16 (PlumX).
Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: London.