Abstract
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. 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. 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. 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.
Highlights
Hereditary macular dystrophies are a heterogeneous group of congenital diseases of the macula which manifest as bilateral involvement with variable onset but most often between 10 and 30 years of age[1,2]
The latter is a rare genetically linked disease characterized by bilateral and often relatively symmetric maculopathy. This dystrophy may be complicated by the development of choroidal neovascularization and accompanied by a significant decrease in visual acuity while the disease itself is often stable or not progressive with a peak deterioration around 12 years of age. It was first reported by Lefler, Wadsworth, and Sidbury in a family originating in Ireland and who settled in the mountains of North Carolina, United States, in the early 1800s, when the authors observed in addition to maculopathy, the occurrence of aminoaciduria in some members of the family[3]
Grade II consists of confluent drusen, retinal pigment epithelium (RPE) atrophy and disciform scarring of the macula and grade III is severe chorioretinal atrophy of the macula which may appear similar to chorioretinal coloboma or staphyloma[4]
Summary
Hereditary macular dystrophies are a heterogeneous group of congenital diseases of the macula which manifest as bilateral involvement with variable onset but most often between 10 and 30 years of age[1,2]. The most common macular dystrophies are Best and Stargardt's diseases, autosomal dominant drusen with macular degeneration, various types of macular grid dystrophy, as well as central areolar choroidal macular dystrophy or North Carolina Macular Dystrophy (NCMD) The latter is a rare genetically linked disease characterized by bilateral and often relatively symmetric maculopathy. This dystrophy may be complicated by the development of choroidal neovascularization and accompanied by a significant decrease in visual acuity while the disease itself is often stable or not progressive with a peak deterioration around 12 years of age.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
