Advancing the Utility of Low-Vision Aids in the Rehabilitation of Vision in Unclassified Macular Dystrophy: A Report of a Rare Disease.

Macular dystrophies are a group of inherited retinal disorders that primarily affect the macula, leading to progressive loss of central vision. This case report describes a 14-year-old girl who has had difficulty with reading, writing, and face recognition in both eyes for four years. The past medical history includes treatment for a small apical muscular ventricular septal defect in 2015. There was no history of ocular surgery or trauma. Her initial unaided visual acuity was 1.0 logMAR in both eyes for distance and N24 at 15-20 cm in both eyes for near vision, assessed using a vocational near-vision chart. Fundus examination revealed retinal pigment epithelium (RPE) alterations, scattered flecks, and vascular anomalies with atypical atrophy in the macula in both eyes, which did not conform to the established macular dystrophies that are described in routine practice. A diagnosis of unclassified macular dystrophy was made. Low-vision aids, including a directory reader, high-add lenses, and a monocular telescope, along with eccentric viewing training, were prescribed. This resulted in an improvement in her functional vision, thereby providing opportunities to enhance her quality of life. The objective of this case report was to highlight expanding presentations of both typical and atypical macular dystrophy and the importance of low-vision aids in the rehabilitation of these patients.