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

Author:

Birtel JohannesORCID,Gliem Martin,Herrmann Philipp,Neuhaus Christine,Holz Frank G,MacLaren Robert E,Scholl Hendrik P N,Charbel Issa PeterORCID

Abstract

Background/AimTo provide a comprehensive multimodal retinal imaging characterisation of patients with North Carolina macular dystrophy (NCMD).MethodsClinical evaluation and retinal imaging in six families.ResultsTwenty-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 thePRDM13gene in all family members with NCMD phenotype.ConclusionPatients 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.

Funder

National Institute for Health Research (NIHR) Oxford Biomedical Research Centre

Dr. Werner Jackstädt-Stiftung

Publisher

BMJ

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. IMPG2-Related Maculopathy;American Journal of Ophthalmology;2024-02

2. Electrophysiological Evaluation of Macular Dystrophies;Journal of Clinical Medicine;2023-02-10

3. Thinking Outside the Circle—The Potential Value of Ultra-Widefield Imaging;JAMA Ophthalmology;2022-10-01

4. A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy;Graefe's Archive for Clinical and Experimental Ophthalmology;2021-08-24

5. North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants;Investigative Opthalmology & Visual Science;2021-06-14

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