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.
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.
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
Authors: Francesco Pichi; Mariachiara Morara; Chiara Veronese; Paolo Nucci; Antonio P Ciardella Journal: J Ophthalmol Date: 2013-04-24 Impact factor: 1.909