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Terminology of MCDR1 What’s in a Name?

Kent W. Small, MD1; Steven Agemy, MD2; Fadi S. Shaya, BS1
[+] Author Affiliations
1Macula and Retina Institute, Glendale, California
2New York Eye and Ear Infirmary of Mount Sinai, New York
JAMA Ophthalmol. 2016;134(4):355-356. doi:10.1001/jamaophthalmol.2015.4978.
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This Viewpoint describes the terminology of the disease MCDR1, also called North Carolina macular dystrophy.

Several articles have discussed the merits of new and old terminology to describe the more severe-appearing lesions (grade 3) in patients with North Carolina macular dystrophy (MCDR1). Careful consideration should be given to the names and terminology used in describing this disease since the original genealogical studies of this family found that this single family had been given several different disease names.14 None of the previous disease names may be as accurate as they should be. Dr Gass’ nomenclature of North Carolina macular dystrophy also may not be precise enough.5 Based on examination by one of us (K.W.S.) of more than 25 families on 4 continents with this phenotype, it is recognized that this disease is not limited to North Carolina, nor does that name necessarily help in correctly diagnosing it. Indeed, Dr Gass’ designation reflects the challenges of naming a disease with such extreme phenotypes all in 1 family. We would prefer calling this disease by the primary linked genetic locus as assigned by the Human Genome Organization, MCDR1 (MC = macular; D = dystrophy; R = retina type to distinguish it from corneal macular dystrophy; 1 = first one mapped in the human genome) as there is rare evidence of genetic heterogeneity. The name, MCDR1, localizes the disease to the retina instead of referring to it as only macular dystrophy. With the increasing utility of genotyping, names of inheritable diseases should relate to their genomic loci. The name MCDR1 serves as a surrogate until the actual mutation(s) and/or gene is identified. It provides both phenotype and genotype information about the disease, which will be used to diagnosis the disease in the future.

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Optical Coherence Tomography of a Patient With MCDR1 in Both the Left and Right Eyes

Optical coherence tomography of the right (A) and left (B) eyes revealed MCDR1 within the outer choroid. The overlying retinal pigment epithelium and retinal layers were thin. I indicates inferior; N, nasal; S, superior; and T, temporal.

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