Literature DB >> 1258954

Familial nanophthalmos.

H E Cross, F Yoder.   

Abstract

Four members of one sibship had microphthalmos with fundi having an irregular "rippled* appearance with alternating light and dark red coloration. Fluorescein angiography revealed patchy choriocapillaris perfusion with unusually rapid diffusion into the retina. Genealogic and geographic data strongly suggest autosomal-recessive inheritance. Only one patient developed glaucoma. The unique combination of abnormalities in this family suggests that a new recessive mutation may be responsible.

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Year:  1976        PMID: 1258954     DOI: 10.1016/0002-9394(76)90244-0

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  13 in total

1.  The nanophthalmic macula.

Authors:  J C Serrano; P R Hodgkins; D S Taylor; G A Gole; A Kriss
Journal:  Br J Ophthalmol       Date:  1998-03       Impact factor: 4.638

2.  Clinical anophthalmia.

Authors:  E Oliveira da Silva; S Santana de Sousa
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

3.  Focal venous hypertension as a pathophysiologic mechanism for tissue hypertrophy, port-wine stains, the Sturge-Weber syndrome, and related disorders: proof of concept with novel hypothesis for underlying etiological cause (an American Ophthalmological Society thesis).

Authors:  Cameron F Parsa
Journal:  Trans Am Ophthalmol Soc       Date:  2013-09

4.  Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

Authors:  Olof H Sundin; Gregory S Leppert; Eduardo D Silva; Jun-Ming Yang; Sharola Dharmaraj; Irene H Maumenee; Luisa Coutinho Santos; Cameron F Parsa; Elias I Traboulsi; Karl W Broman; Cathy Dibernardo; Janet S Sunness; Jeffrey Toy; Ethan M Weinberg
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-23       Impact factor: 11.205

Review 5.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

6.  Angle closure in younger patients.

Authors:  Brian M Chang; Jeffrey M Liebmann; Robert Ritch
Journal:  Trans Am Ophthalmol Soc       Date:  2002

7.  Autosomal dominant simple microphthalmos.

Authors:  E M Vingolo; K Steindl; R Forte; L Zompatori; A Iannaccone; A Sciarra; G Del Porto; M R Pannarale
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

8.  Mutations in a novel serine protease PRSS56 in families with nanophthalmos.

Authors:  Andrew Orr; Marie-Pierre Dubé; Juan C Zenteno; Haiyan Jiang; Geraldine Asselin; Susan C Evans; Aurore Caqueret; Hesham Lakosha; Louis Letourneau; Julien Marcadier; Makoto Matsuoka; Christine Macgillivray; Mathew Nightingale; Simon Papillon-Cavanagh; Scott Perry; Sylvie Provost; Mark Ludman; Duane L Guernsey; Mark E Samuels
Journal:  Mol Vis       Date:  2011-07-12       Impact factor: 2.367

9.  Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

Authors:  Juan Carlos Zenteno; Beatriz Buentello-Volante; Miguel A Quiroz-González; Miguel A Quiroz-Reyes
Journal:  Mol Vis       Date:  2009-09-05       Impact factor: 2.367

10.  Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.

Authors:  Alberto Neri; Rosachiara Leaci; Juan C Zenteno; Cristina Casubolo; Elisabetta Delfini; Claudio Macaluso
Journal:  Mol Vis       Date:  2012-10-26       Impact factor: 2.367

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