Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy)

Abstract

Abstract

Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration

“…Patients tend to lose vision in the 40s and 50s associated with CNV. Dark-adaptation abnormalities are mainly confined to the central macula 11. The conditions are most easily differentiated by drusen-like deposits with spoke-like radiation at the posterior pole and often in the peripapillary region, unlike L-ORMD and the relatively mild retinal atrophy 12 – 14…”

ABCA4-Associated Retinal Degenerations Spare Structure and Function of the Human Parapapillary Retina

“…Molecularly characterized retinal degenerations in the latter category include Sveinsson's chorioretinal atrophy caused by dominant mutations in the TEAD1 gene, 64 some phenotypes of X-linked RP caused by RP2 mutations, 65 and Malattia Leventinese/Doyne honeycomb retinal dystrophy caused by a mutation in EFEMP1. 66 Of interest, vulnerability of the parapapillary region is also seen in normal aging and in age-related macular disease 67-69 (Keilhauer CN, et al IOVS 2004;45:ARVO E-Abstract 3078). Better understanding of the special properties of the parapapillary region may contribute to understanding of the molecular/cellular disease mechanisms involved in different retinal degenerative diseases with dramatically contrasting effects on this region.…”

Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from aCTRP5Gene Mutation

“…After 15,000 IU daily of vitamin A palmitate supplementation for 6 months, the patient's cone-rod break time shortened to 14 minutes. tinese, 56 and AMD. 56,57 All these conditions manifest abnormal subretinal deposition of lipofuscin material and/or thickening of Bruch's membrane adjacent to the RPE.…”

“…tinese, 56 and AMD. 56,57 All these conditions manifest abnormal subretinal deposition of lipofuscin material and/or thickening of Bruch's membrane adjacent to the RPE. 44,58,59 Based on the cosegregation of both the L-ORD and LAZ phenotypes, it is likely that RPE expressing the mutant CTRP5 secretes abnormal proteins that accumulate as subretinal deposits and lead to an age-related macular degeneration phenotype.…”