Doyne honeycomb retinal dystrophy (DHRD), also known as malattia leventinese (MLVT) and autosomal dominant radial drusen, is a progressive disorder characterized by the accumulation of macular and peripapillary yellow-white deposits, termed 'drusen,' beneath the retinal pigment epithelium in the Bruch membrane. With age, drusen increase in size and number, often forming a honeycomb-like pattern. Massive drusen, geographic retinal atrophy, and macular hyperpigmentation eventually cause visual symptoms in the fifth or sixth decades of life, including decreased visual acuity, metamorphopsia, photophobia, and paracentral scotoma. Complications such as secondary choroidal neovascularization and hemorrhage can result in rapid progression (summary by Sheyanth et al., 2021). Hulleman et al. (2011) noted that both DHRD and MLVT present with clinical and pathologic symptoms similar to age-related macular degeneration (see ARMD1, 603075), including soft drusen accumulation, loss of basolateral ruffling of the RPE, RPE vacuolization, and atrophy, with eventual neovascularization in an accelerated time frame, usually in the fourth decade of life.

Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, 169150) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and that the pigmentary deposits are localized below the neuroepithelium, very likely in the pigment epithelium. The reticulum extends from the macula in all directions, sparing the midperiphery and periphery. Visual acuity is unaffected or only minimally affected in advanced stages. Retinal function testing is normal, although the electrooculogram and dark adaptation can be at the lower limit of normal values (summary by Schauwvlieghe et al., 2013).