North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression

TY - JOUR

T1 - North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression

AU - Birtel, Johannes

AU - Gliem, Martin

AU - Herrmann, Philipp

AU - Neuhaus, Christine

AU - Holz, Frank G

AU - MacLaren, Robert E

AU - Scholl, Hendrik P N

AU - Charbel Issa, Peter

N1 - © Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2022/9

Y1 - 2022/9

N2 - BACKGROUND/AIM: To provide a comprehensive multimodal retinal imaging characterisation of patients with North Carolina macular dystrophy (NCMD).METHODS: Clinical evaluation and retinal imaging in six families.RESULTS: Twenty-one subjects showed phenotypic characteristics of NCMD . Small drusen-like deposits were found in all affected individuals, either tightly grouped in the macula, or surrounding atrophic or fibrotic macular alterations. These small subretinal lesions showed an increased fundus autofluorescence and were associated with only mild irregularities on optical coherence tomography imaging. Similar drusen-like deposits were regularly seen in the peripheral fundus, predominantly temporally and often with a radial distribution. Two patients showed a bilateral chorioretinal atrophy and two had a macular neovascularisation (MNV). Findings from follow-up examinations were available from 11 patients. The retinal phenotype remained overall stable, except for two patients: one patient with atrophy showed a distinct growth of the atrophic lesions on longitudinal AF imaging over a review period of 14 years. One patient with MNV showed a unilateral decline of best-corrected visual acuity. Genetic testing identified the single nucleotide variant chr6:100040987G>C upstream of the PRDM13 gene in all family members with NCMD phenotype.CONCLUSION: Patients with NCMD show a characteristic retinal phenotype and distribution of drusen that differ from drusen in patients with age-related macular degeneration. Although the prognosis of this developmental condition is overall better than for other macular diseases with drusen, patients may be at risk of developing MNV or enlargement of pre-existing atrophy.

AB - BACKGROUND/AIM: To provide a comprehensive multimodal retinal imaging characterisation of patients with North Carolina macular dystrophy (NCMD).METHODS: Clinical evaluation and retinal imaging in six families.RESULTS: Twenty-one subjects showed phenotypic characteristics of NCMD . Small drusen-like deposits were found in all affected individuals, either tightly grouped in the macula, or surrounding atrophic or fibrotic macular alterations. These small subretinal lesions showed an increased fundus autofluorescence and were associated with only mild irregularities on optical coherence tomography imaging. Similar drusen-like deposits were regularly seen in the peripheral fundus, predominantly temporally and often with a radial distribution. Two patients showed a bilateral chorioretinal atrophy and two had a macular neovascularisation (MNV). Findings from follow-up examinations were available from 11 patients. The retinal phenotype remained overall stable, except for two patients: one patient with atrophy showed a distinct growth of the atrophic lesions on longitudinal AF imaging over a review period of 14 years. One patient with MNV showed a unilateral decline of best-corrected visual acuity. Genetic testing identified the single nucleotide variant chr6:100040987G>C upstream of the PRDM13 gene in all family members with NCMD phenotype.CONCLUSION: Patients with NCMD show a characteristic retinal phenotype and distribution of drusen that differ from drusen in patients with age-related macular degeneration. Although the prognosis of this developmental condition is overall better than for other macular diseases with drusen, patients may be at risk of developing MNV or enlargement of pre-existing atrophy.

KW - Atrophy

KW - Corneal Dystrophies, Hereditary/diagnosis

KW - Fluorescein Angiography/methods

KW - Humans

KW - Pedigree

KW - Phenotype

KW - Retinal Drusen/diagnosis

KW - Tomography, Optical Coherence

U2 - 10.1136/bjophthalmol-2021-318815

DO - 10.1136/bjophthalmol-2021-318815

M3 - SCORING: Journal article

C2 - 33785507

VL - 106

SP - 1269

EP - 1273

JO - BRIT J OPHTHALMOL

JF - BRIT J OPHTHALMOL

SN - 0007-1161

IS - 9

ER -