Literature DB >> 6830494

Hereditary posterior microphthalmos with papillomacular fold and high hyperopia.

M Spitznas, E Gerke, J B Bateman.   

Abstract

Five patients had a bilateral hereditary ocular syndrome composed of posterior microphthalmos with a papillomacular fold and high hyperopia. Anterior segment dimensions were near normal; the vitreous compartment was markedly fore-shortened. A papillomacular retinal fold extending from the center of the fovea toward the optic nerve head was present. Visual acuity ranged from 0.05 (20/400) to 0.6 (20/33); refractive errors ranged from + 11.25 to + 17.50 diopters. An autosomal recessive pattern of inheritance is postulated.

Entities:  

Mesh:

Year:  1983        PMID: 6830494     DOI: 10.1001/archopht.1983.01040010413014

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  20 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

Review 2.  Small eye - a small stump which can challenge and tilt a great surgery.

Authors:  Vasile Potop
Journal:  Rom J Ophthalmol       Date:  2016 Jul-Sep

3.  Posterior microphthalmos pigmentary retinopathy syndrome.

Authors:  Niranjan Pehere; Subhadra Jalali; Himanshu Deshmukh; Chitra Kannabiran
Journal:  Doc Ophthalmol       Date:  2011-03-18       Impact factor: 2.379

4.  Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

Authors:  Andreas Gal; Isabella Rau; Leila El Matri; Hans-Jürgen Kreienkamp; Susanne Fehr; Karim Baklouti; Ibtissem Chouchane; Yun Li; Monika Rehbein; Josefine Fuchs; Hans C Fledelius; Kaj Vilhelmsen; Daniel F Schorderet; Francis L Munier; Elsebet Ostergaard; Debra A Thompson; Thomas Rosenberg
Journal:  Am J Hum Genet       Date:  2011-03-11       Impact factor: 11.025

5.  High-hyperopia database, part I: clinical characterisation including morphometric (biometric) differentiation of posterior microphthalmos from nanophthalmos.

Authors:  N Relhan; S Jalali; N Pehre; H L Rao; U Manusani; L Bodduluri
Journal:  Eye (Lond)       Date:  2015-10-23       Impact factor: 3.775

6.  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

7.  Foveal avascular zone in macular branch retinal vein occlusion.

Authors:  M B Parodi; F Visintin; P Della Rupe; G Ravalico
Journal:  Int Ophthalmol       Date:  1995       Impact factor: 2.031

8.  A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.

Authors:  Mounira Hmani-Aifa; Salma Ben Salem; Zeineb Benzina; Walid Bouassida; Riadh Messaoud; Khalil Turki; Moncef Khairallah; Ahmed Rebaï; Faïza Fakhfekh; Peter Söderkvist; Hammadi Ayadi
Journal:  Hum Genet       Date:  2009-06-14       Impact factor: 4.132

9.  Atypical features of nanophthalmic macula--a spectral domain OCT study.

Authors:  Aparna Rao; Tapas Ranjan Padhi; Sananu Jena; Souvik Mandal; Taraprasad Das
Journal:  BMC Ophthalmol       Date:  2012-06-06       Impact factor: 2.209

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

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.