Rare case of Stargardt Juvenile Macular Degeneration reported in NEJM

Dr Stephen H. Tsang and colleagues at Columbia University Irving Medical Center, New York have reported a rare case of Stargardt Juvenile Macular Degeneration that has been published in the New England journal of Medicine.

Juvenile Macular Degeneration refers collectively to a group of rare and inherited eye diseases that affect the vision of children and young adults. Juvenile Macular Degeneration primarily targets the vision of children, teens and young adults.

Stargardt's disease, Best Disease and Juvenile Retinoschisis are the major eye diseases constituting juvenile macular degeneration. AMD and JMD not only seem synonymous, they work the same way as well, i.e. AMD affects the macula in adults, while JMD affects the macula in children, teens and young adults.

Juvenile macular degeneration is an inherited genetic disorder and different types of the disease have different inheritance patterns.

According to the history a 13-year-old boy was referred to the ophthalmology clinic with enlarging blind spots in the central vision in both eyes. He had no family history of eye problems. At presentation, the visual acuity was 20/40 in the right eye and 20/50 in the left eye. Fundus examination of both eyes showed widespread, yellow, pisciform flecks. Short-wavelength autofluorescence imaging showed diffuse hyperautofluorescent lesions suggestive of bisretinoid accumulation and patchy central areas of atrophy of the retinal pigment epithelium with peripapillary sparing (Panel A). These findings are consistent with a diagnosis of Stargardt juvenile macular degeneration (also called Stargardt's disease), an autosomal recessive disorder caused by mutations in the gene encoding ATP-binding cassette subfamily A member 4 (ABCA4). Dysfunction of the ABCA4 transporter leads to the accumulation of toxic bisretinoids with consequent degeneration of the retinal pigment epithelium and photoreceptors. Vision loss typically begins during childhood and progresses. The diagnosis was confirmed with sequencing of ABCA4. The patient was advised to avoid vitamin A supplementation, which may accelerate bisretinoid accumulation. At 6-year follow-up, visual acuity was 20/70 in the right eye and 20/50 in the left eye, with worsening central scotomata. Autofluorescence imaging showed progressive atrophy in the previously identified areas of pisciform flecks with the maintenance of peripapillary sparing (Panel B)

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N Engl J Med 2020; 382:2353