North Carolina's dominant progressive foveal dystrophy: how progressive is it?

Abstract

We studied 34 family members at risk of having dominant progressive foveal dystrophy of Lefler, Wadsworth, and Sidbury (also called North Carolina macular dystrophy) and found 17 to be affected. Fifteen of these affected subjects were observed over at least a 10-year period for evidence of progressive macular degeneration. Only one subject showed objective evidence of progressive deterioration in only one eye. Our findings further substantiate that this dystrophy generally has a stable course, contrary to its original description.

Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q

“…It is conceivable that the early loss of the fovea is followed by neural specialisation of an eccentric point. A grade III lesion has been previously identified in a 3 month old boy 17. The fact that visual acuity is worse in the partner eye with a similar lesion suggests that fixation is predominantly taken over by one eye, while the partner eye is neglected and does not develop an eccentric vision of similar quality.…”

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss

“…22 The drusen-like subretinal deposits with RPE disturbance and the areas of well demarcated chorioretinal atrophy and pigment epithelial hypertrophy would be consistent with grade I and III NCMD lesions, respectively. 10 Furthermore, the presence of normal electrophysiology parallels the findings in NCMD 4 and suggests that the deficit is restricted to the central retina.…”

“…It is now agreed that the condition is not progressive. [21][22] Visual acuity varies from normal to significantly compromised and the posterior segment findings can be classified into one of three grades depending on severity: fine "drusen" within 3°of fixation (grade I); confluent elevated subretinal deposits sometimes associated with retinal pigment epithelial (RPE) changes (grade II); central macular chorioretinal atrophy with hypertrophic fibrous tissue (grade III). 10 Deafness is a common congenital anomaly with an incidence of 1 in 1000 live births.…”

Macular Dystrophies

“…261 The latter term is a particularly unfortunate misnomer because Small and colleagues clearly demonstrated that NCMD is a developmental abnormality that is almost completely stationary in most individuals. 269 Large lesions are large at birth and do not progress from smaller ones. This complete lack of progression is one of the most reliable diagnostic features of the disease, and accounts to some degree for the amazingly good visual acuity in some patients with very large lesions.…”

“…The fundus findings in NCMD tend to be bilateral and quite symmetric. 269,270 NCMD was mapped by Small and coworkers to chromosome 6 271-273 but the causative gene has not yet been identified. 42.64A).…”