A reappraisal of the clinical spectrum of North Carolina macular dystrophy.
OBJECTIVE
To characterize the clinical phenotypes and genotype of a large family with North Carolina macular dystrophy (NCMD).


METHODS
Observational, retrospective case series.


METHODS
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.


METHODS
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.
Khurana
Rahul N
RN
Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD 21205, USA.
Sun
Xufang
X
Pearson
Eric
E
Yang
Zhenglin
Z
Harmon
Jennifer
J
Goldberg
Morton F
MF
Zhang
Kang
K
D000328:Adult; D015142:Baltimore; D002648:Child; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009657:North Carolina; D010375:Pedigree; D010641:Phenotype; D010781:Photography; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D055815:Young Adult
D005136:Eye Proteins; C402686:MCDR1 protein, human