MedGen

Autosomal recessive cutis laxa type ID (ARCL1D) is characterized by facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations, including inguinal, ventral, diaphragmatic, sciatic, and obturator, as well as large diverticula of the gastrointestinal tract and urinary bladder. The skin is thin and translucent with easy bruising; the degree of laxity is variable and progresses with age in some patients (Megarbane et al., 2012; Bizzari et al., 2020; Driver et al., 2020; Verlee et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). [from OMIM]

Open angle glaucoma-1H (GLC1H) is characterized by elevated intraocular pressures (IOPs) associated with visual field and optic nerve abnormalities. In some families, affected members present mostly in the 'juvenile-onset' (JOAG) age range (between 3 and 35 to 40 years of age), whereas in other families, affected individuals present mostly in the 'adult-onset' (POAG) age range (after age 35 or 40 years). Patients with early-onset disease generally have a more severe presentation, with higher IOPs and higher likelihood of being blind in at least 1 eye (summary by Mackay et al., 2015; Collantes et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see 137760. [from OMIM]

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. [from OMIM]