Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy

Abstract

Aims. We present a familial hereditary macular dystrophy, resembling North Carolina Macular Dystrophy. In members of a family, we describe the development of diagnostic-therapeutic approaches and their impact on the prognosis of those whose vision was affected. Methods. The macular dystrophy of varying degrees of severity was diagnosed in 3 consecutive generations in different family members, both men and women. Modern therapeutic tools were used for the diagnostics. In one patient of the youngest generation, the development of secondary choroidal neovascularization (CNV) was identified and treated with an anti-VEGF (vascular endothelial growth factor) agent. DNA was isolated from venous blood and genome sequencing was performed in a proband. Results. We analysed the data of 13 members of one family of three consecutive generations. Six of them had macular dystrophy. The first were two of three siblings, a woman (73 years old) and a man (67). The offspring of the afflicted man, a female (36) and a male (80), had maculopathy. The first daughter of the woman (12) revealed findings of maculopathy but with normal electrical activity of the retina. The second girl (18), developed secondary CNV which responded well to intravitreal anti-VEGF treatment. Genetic analysis excluded mutations previously reported to be pathogenic for NCMD. Conclusion.If there is a maculopathy of unclear etiology in younger patients or in patients with unclear development or appearance, it is advisable to focus carefully on the family history and trace the occurrence of impaired vision in other family members.

Electrophysiological Evaluation of Macular Dystrophies

“…North Carolina macular dystrophy (NCMD, OMIM 136550) is a rare inherited macular dystrophy that is characterized by severe profound vision loss affecting patients as young as infants, but it is usually not progressive after around 12 years of age when the deterioration reaches a maximum [ 97 ]. Further vision loss, if any, tends to result from choroid neovascularization [ 98 ].…”

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

“…This family was previously clinically described by Nekolova et al (2021). 91 LE: left eye, RE: right eye, BE: both eyes.…”