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Case Report/Case Series |

Intrachoroidal Cavitation in North Carolina Macular Dystrophy

Scott D. Schoenberger, MD1; Anita Agarwal, MD1
[+] Author Affiliations
1Department of Ophthalmology, Vanderbilt Eye Institute, Nashville, Tennessee
JAMA Ophthalmol. 2013;131(8):1073-1076. doi:10.1001/jamaophthalmol.2013.1598.
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North Carolina macular dystrophy (NCMD) is an autosomal dominantly inherited condition with 3 phenotypic grades.1 Grade 1 has yellow or white drusenlike deposits. Grade 2 features confluent drusen, pigmentary changes, retinal pigment epithelial (RPE) atrophy, or subretinal scarring. Grade 3 is described as a macular staphyloma, coloboma, or caldera with hyperpigmentation and subretinal fibrosis. Different grades and expressivity may be seen within one family, and the etiology is unknown.2

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Figure 1.
Fundus Photographs and Optical Coherence Tomography of 20-Year-Old Woman

Fundus photographs of the 20-year-old woman with macular staphylomas, visible bare sclera, hyperpigmentation, and grayish discoloration (A and B). Optical coherence tomography of the right eye (C) and left eye (D) revealed nonreflective cavities within the outer choroid without communications to the vitreous. The overlying retinal pigment epithelium and retinal layers were thin or absent.

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Figure 2.
Fundus Photographs and Optical Coherence Tomography of 40-Year-Old Patient

Fundus photographs of the 40-year-old patient with macular staphylomas, pigment deposits, and grayish-yellow changes at the edge (A and B). Optical coherence tomography of the right eye (C and D) and left eye (E and F) revealed nonreflective cavities within the outer choroid without communications to the vitreous. The overlying retinal pigment epithelium and retinal layers were thin or absent.

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