North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression
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North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression. / Birtel, Johannes; Gliem, Martin; Herrmann, Philipp; Neuhaus, Christine; Holz, Frank G; MacLaren, Robert E; Scholl, Hendrik P N; Charbel Issa, Peter.
in: BRIT J OPHTHALMOL, Jahrgang 106, Nr. 9, 09.2022, S. 1269-1273.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -