TY - JOUR
T1 - A Reappraisal of the Clinical Spectrum of North Carolina Macular Dystrophy
AU - Khurana, Rahul N.
AU - Sun, Xufang
AU - Pearson, Eric
AU - Yang, Zhenglin
AU - Harmon, Jennifer
AU - Goldberg, Morton F.
AU - Zhang, Kang
N1 - Funding Information:
RNK is a Ronald G. Michels Fellow and is supported by the Ronald G. Michels Foundation, Riderwood, Maryland; MFG is supported in part by the Guerrieri Retinal Research Fund at the Wilmer Eye Institute, Baltimore, Maryland; an unrestricted grant from Research to Prevent Blindness, Inc., New York, New York; and by the National Eye Institute, Bethesda, Maryland (core grant no.: 90709). KZ is supported by the National Institutes of Health, Bethesda, Maryland (grant nos.: R01EY14428, R01EY14448, R01EY18660, and P30EY014800); Foundation Fighting Blindness, Owings Mills, Maryland; the Macular Vision Research Foundation, West Conshohocken, Pennsylvania; Research to Prevent Blindness, Inc., New York, New York; the Ruth and Milton Steinbach Fund, New York, New York; and the Burroughs Wellcome Fund Clinical Scientist Award in Translational Research, Research Triangle Park, North Carolina.
PY - 2009/10
Y1 - 2009/10
N2 - Purpose: To characterize the clinical phenotypes and genotype of a large family with North Carolina macular dystrophy (NCMD). Design: Observational, retrospective case series. Participants: Thirteen participants who were at risk of inheriting a dominantly transmitted disease gene from a 4-generation family from Baltimore were examined. Methods: Thirteen participants underwent ophthalmic examination and genomic linkage analysis. Fundus photography, spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography, ultrasonography, full-field electroretinography, and electro-oculography were performed on some patients. Main Outcome Measures: Description of clinical phenotypes with genomic linkage to the MCDR1 locus. Results: Nine of 13 participants were affected with NCMD. There are variable and previously unreported clinical manifestations among affected individuals with NCMD, including drusen, macular staphyloma, choroidal neovascularization, a retinal pigment epithelial tear, and geographic atrophy. The distinctive and virtually pathognomonic grade 3 lesions in NCMD are neither staphylomas nor colobomas, as previously thought. As shown by ultrasonography and SD-OCT, they are deep chorioretinal excavations not involving the sclera, for which the authors propose a new term: macular caldera. Linkage analysis was performed, and the disease-causing gene in this family was mapped to the MCDR1 locus. Conclusions: North Carolina macular dystrophy has a wide spectrum of clinical phenotypes that resemble age-related macular degeneration except for their early age of onset. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
AB - Purpose: To characterize the clinical phenotypes and genotype of a large family with North Carolina macular dystrophy (NCMD). Design: Observational, retrospective case series. Participants: Thirteen participants who were at risk of inheriting a dominantly transmitted disease gene from a 4-generation family from Baltimore were examined. Methods: Thirteen participants underwent ophthalmic examination and genomic linkage analysis. Fundus photography, spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography, ultrasonography, full-field electroretinography, and electro-oculography were performed on some patients. Main Outcome Measures: Description of clinical phenotypes with genomic linkage to the MCDR1 locus. Results: Nine of 13 participants were affected with NCMD. There are variable and previously unreported clinical manifestations among affected individuals with NCMD, including drusen, macular staphyloma, choroidal neovascularization, a retinal pigment epithelial tear, and geographic atrophy. The distinctive and virtually pathognomonic grade 3 lesions in NCMD are neither staphylomas nor colobomas, as previously thought. As shown by ultrasonography and SD-OCT, they are deep chorioretinal excavations not involving the sclera, for which the authors propose a new term: macular caldera. Linkage analysis was performed, and the disease-causing gene in this family was mapped to the MCDR1 locus. Conclusions: North Carolina macular dystrophy has a wide spectrum of clinical phenotypes that resemble age-related macular degeneration except for their early age of onset. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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U2 - 10.1016/j.ophtha.2009.03.028
DO - 10.1016/j.ophtha.2009.03.028
M3 - Article
C2 - 19616854
AN - SCOPUS:70349456645
SN - 0161-6420
VL - 116
SP - 1976
EP - 1983
JO - Ophthalmology
JF - Ophthalmology
IS - 10
ER -