Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1).

PURPOSE: North Carolina Macular Dystrophy (NCMD) and Best Vitelliform Macular Dystrophy (BVMD) are rare autosomal dominant macular dystrophies. Both BVMD and NCMD have markedly variable expressivity. In some individuals, it can be difficult to differentiate between the two disease entities. METHODS: Clinical findings including fundus photography, fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SD-OCT) were evaluated in 5 individuals with NCMD and 3 with BMD. Electrooculography (EOG) was performed in 2 NCMD subjects. Molecular diagnosis was performed using Sanger DNA sequencing. IRB approval was obtained. RESULTS: Five NCMD subjects had clinical findings indistinguishable from three of our BVMD subjects. Molecular diagnosis was confirmed in all but one BVMD subject who had an abnormal EOG prior to discovery of the BEST1 gene. Two NCMD subjects had an abnormal EOG with a normal ERG, which has been considered a unique feature of BVMD. SD-OCT in one BVMD subject demonstrated a small lucency/excavation into the choroid similar to that in grade 3 lesions of NCMD. Two NCMD subjects had elevated sub-macular lesions giving a pseudo-vitelliform appearance on OCT similar to BVMD. CONCLUSION: Best Vitelliform Macular Dystrophy can be a phenocopy of NCMD. There is considerable clinical overlap between NCMD and BVMD, which can cause diagnostic inaccuracies. Our new findings demonstrate that like BVMD, NCMD can also have an abnormal EOG with a normal ERG. The overlapping phenotypes of BVMD with NCMD may provide insights into the mechanisms of the macular changes.

The Role of Optical Coherence Tomography Angiography (OCTA) in Detecting Choroidal Neovascularization in Different Stages of Best Macular Dystrophy: A Case Series.

Best macular dystrophy (BMD) is an autosomal dominant macular dystrophy of childhood onset characterized by bilateral and symmetric vitelliform lesions. Several stages of disease have been well-described in the literature. Choroidal neovascularization (CNV) has traditionally been considered a hallmark of end-stage disease, and anti-vascular endothelial growth factor (anti-VEGF) agents have been used to improve visual prognosis. While CNV was historically detected with fluorescein angiography, optical coherence tomography angiography (OCTA) has recently been employed as a novel mechanism for identifying CNV in BMD. In this case series, we discuss our institutional experience with using OCTA to detect CNV in BMD and contextualize this experience within the broader emerging literature. While OCTA allows for the identification of CNV in less severe stages of BMD, the management of this CNV remains uncertain.

Large, Spontaneous Macular Hole with Posterior Pole Detachment in a Patient with Best Vitelliform Macular Dystrophy.

PURPOSE: To describe the visual and anatomical outcomes in a patient with a full-thickness macular hole and Best vitelliform macular dystrophy. METHODS: The authors present a case of a large spontaneous macular hole with associated posterior pole detachment in a patient with a history of Best vitelliform macular dystrophy including clinical course and surgical outcome. PATIENT: The patient presented with a history of blurred central vision. He was known to have Best vitelliform macular dystrophy. Examination revealed BCVA 6/36 (0.78 logMAR) and a full-thickness macular hole (1,102 µm) with a shallow posterior pole detachment extending to the vascular arcades. He underwent phacovitrectomy with silicone oil tamponade. Internal limiting membrane (ILM) peel was prohibited due to a very adherent posterior hyaloid membrane (PHM). RESULTS: The patient developed type 2 closure. He had oil removal in 14 months combined with PHM and ILM peel. Two months postoperatively, he had further reduction of the foveal defect and the retina remained flat. Final BCVA was 6/24 (0.60 logMAR). CONCLUSION: Macular holes with Best disease are rare and are thought to be due to rupture of a cyst in the vitelliform stage or atrophy in later stages. This case outlines that closure of the macular hole, flattening of the detachment, and improvement in visual acuity is possible with vitrectomy and ILM peeling.

Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy.

PURPOSE: To report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma. OBSERVATIONS: A 15 year old male with a history of Best macular dystrophy who had been followed by ophthalmology for 9 years was noted to have progressive enlargement of a superonasal peripapillary retinal lesion. Imaging and exam are consistent with a diagnosis of retinal astrocytic hamartoma. There were no extraocular signs or symptoms that were diagnostic of a phakamatosis. Genetic testing was positive for a mutation in BEST1, but not TSC1 or TSC2. CONCLUSIONS AND IMPORTANCE: Retinal astrocytic hamartoma is an unusual association with Best macular dystrophy, and this case highlights the balanced approach needed to navigate a potentially complex work-up.

Best macular dystrophy in a nigerian: a case report.

Best macular dystrophy is reported to be rare in Africans. It is a hereditary disease that starts in childhood and progresses through some stages before visual symptoms occur. This case report presents a 43-year-old Nigerian with the disease and stresses the importance of regular eye exams of patients and relatives to detect changes such as choroidal neovascular membrane amenable to treatment.