Juvenile Macular Degenerations

Abstract

In this article, we review the following 3 common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography imaging, and genetic testing. Early diagnosis promotes optimal management. Although there is currently no definitive cure for these conditions, therapeutic modalities under investigation include pharmacologic treatment, gene therapy, and stem cell transplantation.

Figure 1

Fundus photos showing a normal macula and examples of the typical macular findings in common juvenile macular degenerations. A) Normal macula. B) STGD showing atrophic macular region. C) XJR showing the classical “spoke-like” pattern in the macula. D) BVMD showing vitelliform material and clear fluid in a mottled distribution in the macula. STGD: Stargardt’s disease; XJR: X-linked retinoschisis; BVMD: Best vitelliform macular dystrophy

Figure 2

Spectral domain ocular coherence tomography (SD-OCT) scans showing a normal macula and examples of the typical macular findings in common juvenile macular degenerations. A) Normal macula showing all of the retinal layers. B) STGD showing absence of the outer retinal layers, with a significant thinning at the level of the fovea. C) XJR showing the presence of cystic spaces within the retinal layers. D) BVMD showing a heterogeneous material with hypereflective areas and some optical empty areas under the fovea. STGD: Stargardt’s disease; XJR: X-linked retinoschisis; BVMD: Best vitelliform macular dystrophy