Literature DB >> 10080224

Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report.

Y M Buys1, C J Pavlin.   

Abstract

OBJECTIVE: Although the associations of retinitis pigmentosa (RP) with nanophthalmos/microphthalmos and RP with optic disc drusen have previously been recognized, the concurrence of all three features, as far as the authors are aware, has not previously been reported.
DESIGN: Case report.
RESULTS: The authors report a sporadic case of nanophthalmos, RP, and optic nerve drusen with the additional complication of chronic angle closure glaucoma.
CONCLUSIONS: Visual loss may be secondary to the complications of nanophthalmos, RP, or optic nerve drusen. Chronic angle closure may be caused by choroidal effusion with serous retinal detachment, which may, in turn, cause a pseudo-RP picture. It is therefore important to recognize the possible association of true RP with nanophthalmos as a cause for visual deterioration.

Entities:  

Mesh:

Year:  1999        PMID: 10080224     DOI: 10.1016/S0161-6420(99)90126-4

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  8 in total

1.  Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.

Authors:  Astra Dinculescu; Jackie Estreicher; Juan C Zenteno; Tomas S Aleman; Sharon B Schwartz; Wei Chieh Huang; Alejandro J Roman; Alexander Sumaroka; Qiuhong Li; Wen-Tao Deng; Seok-Hong Min; Vince A Chiodo; Andy Neeley; Xuan Liu; Xinhua Shu; Margarita Matias-Florentino; Beatriz Buentello-Volante; Sanford L Boye; Artur V Cideciyan; William W Hauswirth; Samuel G Jacobson
Journal:  Hum Gene Ther       Date:  2012-01-26       Impact factor: 5.695

2.  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

3.  A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.

Authors:  M A Reddy; P J Francis; V Berry; K Bradshaw; R J Patel; E R Maher; R Kumar; S S Bhattacharya; A T Moore
Journal:  Br J Ophthalmol       Date:  2003-02       Impact factor: 4.638

4.  Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review.

Authors:  Nasser G Alsaedi; Khalid Alrubaie
Journal:  Case Rep Ophthalmol Med       Date:  2019-05-19

5.  Association between retinitis pigmentosa and an increased risk of primary angle closure glaucoma: A population-based cohort study.

Authors:  Man-Chen Hung; Yu-Yen Chen
Journal:  PLoS One       Date:  2022-09-09       Impact factor: 3.752

6.  A report on a series of nanophthalmos with histopathology and immunohistochemistry analyses using light microscopy.

Authors:  Sharmila Rajendrababu; Sujani Shroff; Shilpa More; Shanthi Radhakrishnan; Gowripriya Chidambaranathan; Vijayalakshmi A Senthilkumar; Uduman M Sithiq; Naresh Babu Kannan
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

7.  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

Review 8.  Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

Authors:  Pedro C Carricondo; Thais Andrade; Lev Prasov; Bernadete M Ayres; Sayoko E Moroi
Journal:  J Ophthalmol       Date:  2018-05-09       Impact factor: 1.909

  8 in total

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