Autosomal Dominant Rhegmatogenous Retinal Detachment

A hereditary autosomal dominant disorder characterized by retinal detachment due to retinal tearing at the time of posterior vitreous detachment and PATHOLOGICAL MYOPIA. It is often described as a feature of Stickler Syndrome (OMIM: 108300) or erosive vitreoretinopathy (OMIM: 143200). However affected individuals with DRRD alone do not exhibit the vitreous phenotypes associated with Stickler Syndrome and show no signs of skeletal dysplasia or deafness. Mutations in the COL2A1 gene have been identified. OMIM: 609508

Also Known As:

Networked: 17 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Breast Neoplasms (Breast Cancer)
2.	Pancreatic Neoplasms (Pancreatic Cancer)

Experts

1.	Bravi, Francesca: 3 articles (02/2022 - 07/2021)
2.	La Vecchia, Carlo: 3 articles (02/2022 - 07/2021)
3.	Negri, Eva: 3 articles (02/2022 - 07/2021)
4.	Turati, Federica: 3 articles (02/2022 - 07/2021)
5.	Mattioli, Veronica: 2 articles (02/2022 - 01/2022)
6.	Rossi, Marta: 2 articles (02/2022 - 01/2022)
7.	Crispo, Anna: 2 articles (01/2022 - 07/2021)
8.	Serraino, Diego: 2 articles (01/2022 - 07/2021)
9.	Eliassen, A Heather: 2 articles (01/2021 - 12/2020)
10.	Farvid, Maryam S: 2 articles (01/2021 - 12/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Dominant Rhegmatogenous Retinal Detachment:

1.	Melphalan (Alkeran)FDA LinkGeneric 12/01/2022 - "On the bases of our results, we demonstrated that first line treatment for NEMM should be based on DrRd (most active, but continuous treatment), DrVMP (quite "fixed-time" treatment), or, alternatively, VRD and that, surprisingly, melphalan as well as Rd doublets still deserve a role in this setting."
2.	Antipsychotic Agents (Antipsychotics)IBA 12/01/1990 - "Effects of low doses of neuroleptics on temporal regulation in a differential reinforcement of response duration (DRRD) schedule in the dog." 06/01/1990 - "The purpose of this study was to present a comparative and detailed picture of behavioral, physiological, and motor effects of some barbiturates, benzodiazepines, and neuroleptics, using an operant procedure of differential reinforcement of response duration (DRRD) in the dog. "
3.	Sulpiride (neogama)IBA 12/01/1990 - "This study aims to measure the effects of low doses of haloperidol (0.01, 0.05, 0.1 mg/kg) and sulpiride (5, 10, 15 mg/kg) in the dog using a differential reinforcement of response duration (DRRD) schedule with positive and negative external stimuli. "
4.	Haloperidol (Haldol)FDA LinkGeneric 12/01/1990 - "This study aims to measure the effects of low doses of haloperidol (0.01, 0.05, 0.1 mg/kg) and sulpiride (5, 10, 15 mg/kg) in the dog using a differential reinforcement of response duration (DRRD) schedule with positive and negative external stimuli. "
5.	Diazepam (Valium)FDA LinkGeneric 01/01/1992 - "The increase of responses duration by closepine and their shortening by diazepam as well as the influence of these pharmacological substances on the frequency of responses in dependence of dose, confirm the results of the previous studies of DRRD and DRL (differential reinforcement of low rate of responses) and prove differential sensitivity of our procedure to pharmacological substances."
6.	BenzodiazepinesIBA 06/01/1990 - "The purpose of this study was to present a comparative and detailed picture of behavioral, physiological, and motor effects of some barbiturates, benzodiazepines, and neuroleptics, using an operant procedure of differential reinforcement of response duration (DRRD) in the dog. "
7.	BarbituratesIBA 06/01/1990 - "The purpose of this study was to present a comparative and detailed picture of behavioral, physiological, and motor effects of some barbiturates, benzodiazepines, and neuroleptics, using an operant procedure of differential reinforcement of response duration (DRRD) in the dog. "
8.	CoffeeFDA Link 01/01/2022 - "A DRRD score was included based on 9 dietary factors (cereal fiber, coffee, nuts, whole fruits, ratio of polyunsaturated to saturated, trans fat, sugar-sweetened beverages, red and processed meat, and lower glycemic index). " 01/01/2021 - "The DRRD includes 9 components: higher intakes of cereal fiber, coffee, nuts, whole fruits and polyunsaturated/saturated fat ratio; and lower glycemic index, trans fat, sugar-sweetened beverages, and red meat. " 12/10/2020 - "A DRRD score was derived with 9 factors: lower glycemic index of diet; lower intakes of trans fat, sugar-sweetened beverages/fruit juices, and red/processed meat; higher intakes of cereal fiber, coffee, nuts, and whole fruits; and a higher ratio of polyunsaturated to saturated fat (score range: 9-45). " 09/01/2023 - "Adherence to the DRRD was measured using a score based on 8 dietary components, giving higher scores for greater intakes of cereal fiber, coffee, fruit, nuts, higher polyunsaturated to saturated fatty acids ratio, lower glycemic index of diet, and lower intakes of red/processed meat, and sweetened beverages/and fruit juices. " 02/01/2022 - "A DRRD score was derived from 8 dietary components: cereal fiber, total fruit, coffee, polyunsaturated to saturated fats ratio and nuts (higher score for higher intake), and dietary glycemic index, red/processed meat and sugar-sweetened beverages/fruit juices (higher score for lower intake). "
9.	Proteins (Proteins, Gene)FDA Link 02/01/2002 - "The lack of an extensive interface in the unphosphorylated protein distinguishes DrrD from other structurally characterized multidomain RRs and suggests a different mode of interdomain regulation." 06/14/2012 - "For the construction of the barley EST DNA Replication and Repair Database (bEST-DRRD), presented here, the Arabidopsis nucleotide and protein sequences involved in DNA replication and repair were used to browse for and retrieve the deposited sequences, derived from four barley (Hordeum vulgare L.) sequence databases, including the "Barley Genome version 0.05" database (encompassing ca. 90% of barley coding sequences) and from two databases covering the complete genomes of two monocot models: Oryza sativa L. "
10.	Fatty Acids (Saturated Fatty Acids)IBA 09/01/2023 - "Adherence to the DRRD was measured using a score based on 8 dietary components, giving higher scores for greater intakes of cereal fiber, coffee, fruit, nuts, higher polyunsaturated to saturated fatty acids ratio, lower glycemic index of diet, and lower intakes of red/processed meat, and sweetened beverages/and fruit juices. " 07/30/2021 - "We derived a DRRD score assigning higher scores for higher intakes of cereal fiber, fruit, coffee, polyunsaturated:saturated fatty acid ratio, and nuts and for lower glycemic load and lower intakes of red/processed meat and sugar-sweetened beverages/fruit juices. "

Therapies and Procedures

1.	Diet Therapy (Therapy, Diet) 01/01/2021 - "These findings demonstrate that greater adherence to DRRD was associated with better survival, suggesting postdiagnosis dietary modification consistent with type II diabetes prevention may be important for breast cancer survivors. "
2.	Drug Tapering 09/01/2019 - "Using a regression approach and Monte Carlo simulation, the dose reduction rate by decontamination eliminating the effect of physical decay (DRRd') was also estimated as a function of the timing of the decontamination and the dose at the time of starting the decontamination. "