Literature DB >> 11730667

North Carolina macular dystrophy: clinicopathologic correlation.

I Voo1, B J Glasgow, J Flannery, N Udar, K W Small.   

Abstract

PURPOSE: To describe the clinical and histopathologic findings of a 72-year-old female with North Carolina macular dystrophy.
METHODS: Observational case report with histopathologic correlation. Clinical examination includes slit-lamp biomicroscopy, indirect ophthalmoscopy, color fundus photography, and focal electroretinography. Histopathologic examination of the enucleated left eye performed with light microscopy.
RESULTS: Light microscopy demonstrated a discrete macular lesion characterized by focal absence of photoreceptor cells and retinal pigment epithelium with attenuation of the Bruch membrane and focal atrophy of the choriocapillaris. Adjacent to the macular lesion, some lipofuscin was identified in the retinal pigment epithelium.
CONCLUSION: North Carolina macular dystrophy has both clinical and microscopic appearances of a well-demarcated lesion confined to the macula, which involves the retina, pigment epithelium, and choriocapillaris.

Entities:  

Mesh:

Year:  2001        PMID: 11730667

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


  5 in total

1.  Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography.

Authors:  Jonathan Yeoh; Waheeda Rahman; Fred Chen; Claire Hooper; Praveen Patel; Adnan Tufail; Andrew R Webster; Anthony T Moore; Lyndon Dacruz
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2010-07-17       Impact factor: 3.117

2.  Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.

Authors:  Thomas Rosenberg; Ben Roos; Thorkild Johnsen; Niels Bech; Todd E Scheetz; Michael Larsen; Edwin M Stone; John H Fingert
Journal:  Mol Vis       Date:  2010-12-09       Impact factor: 2.367

3.  Choroidal thickness profile in inherited retinal diseases in Indian subjects.

Authors:  Jay Chhablani; Ashraya Nayaka; Padmaja Kumari Rani; Subhadra Jalali
Journal:  Indian J Ophthalmol       Date:  2015-05       Impact factor: 1.848

4.  A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.

Authors:  Prasanthi Namburi; Samer Khateb; Segev Meyer; Tom Bentovim; Rinki Ratnapriya; Alisa Khramushin; Anand Swaroop; Ora Schueler-Furman; Eyal Banin; Dror Sharon
Journal:  Mol Vis       Date:  2020-04-16       Impact factor: 2.367

5.  A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).

Authors:  Kent W Small; Stijn Van de Sompele; Karen Nuytemans; Andrea Vincent; Ozge Ozalp Yuregir; Emine Ciloglu; Cahfer Sariyildiz; Toon Rosseel; Jessica Avetisjan; Nitin Udar; Jeffery M Vance; Margaret A Pericak-Vance; Elfride De Baere; Fadi S Shaya
Journal:  Mol Vis       Date:  2021-09-01       Impact factor: 2.367

  5 in total

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