Research & Literature

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.

Duncker T, Tsang SH, Woods RL, et al.

Investigative ophthalmology & visual science 2015; (56(5)):3159-70 doi:10.1167/iovs.14-16343.

Glaucoma Blindness at a Tertiary Eye Care Center.

Stone JS, Muir KW, Stinnett SS, Rosdahl JA

North Carolina medical journal 2015; (76(4)):211-8 doi:10.18043/ncm.76.4.211.

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

Shankar SP, Hughbanks-Wheaton DK, Birch DG, et al.

Investigative ophthalmology & visual science 2016; (57(2)):349-59 doi:10.1167/iovs.15-16965.

The Effects of Low-Vision Rehabilitation on Reading Speed and Depression in Age Related Macular Degeneration: A Meta-Analysis.

Hamade N, Hodge WG, Rakibuz-Zaman M, Malvankar-Mehta MS

PloS one 2016; (11(7)):e0159254 doi:10.1371/journal.pone.0159254.

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.

Chen X, Sheng X, Zhuang W, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(8)):945-954 doi:10.1038/gim.2016.217.

An inducible amphipathic helix within the intrinsically disordered C terminus can participate in membrane curvature generation by peripherin-2/rds.

Milstein ML, Kimler VA, Ghatak C, et al.

The Journal of biological chemistry 2017; (292(19)):7850-7865 doi:10.1074/jbc.M116.768143.

PREFERRED RETINAL LOCUS LOCATIONS IN AGE-RELATED MACULAR DEGENERATION.

Erbezci M, Ozturk T

Retina (Philadelphia, Pa.) 2018; (38(12)):2372-2378 doi:10.1097/IAE.0000000000001897.

Prevalence of vision loss among hospital in-patients; a risk factor for falls?

Leat SJ, Zecevic AA, Keeling A, et al.

Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) 2018; (38(1)):106-114 doi:10.1111/opo.12428.

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Kersten E, Geerlings MJ, Pauper M, et al.

Clinical genetics 2018; (94(6)):569-574 doi:10.1111/cge.13447.

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Weisschuh N, Feldhaus B, Khan MI, et al.

PloS one 2018; (13(12)):e0205380 doi:10.1371/journal.pone.0205380.

Retinal dystrophies and variants in PRPH2.

Palma MMD, Martin D, Salles MV, et al.

Arquivos brasileiros de oftalmologia 2019; (82(2)):158-160 doi:10.5935/0004-2749.20190033.

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.

Charbel Issa P, Gliem M, Yusuf IH, et al.

Investigative ophthalmology & visual science 2019; (60(10)):3388-3397 doi:10.1167/iovs.18-26415.

Foveal Sparing in Central Retinal Dystrophies.

Bax NM, Valkenburg D, Lambertus S, et al.

Investigative ophthalmology & visual science 2019; (60(10)):3456-3467 doi:10.1167/iovs.18-26533.

Wide-field fundus autofluorescence imaging in patients with hereditary retinal degeneration: a literature review.

Oishi A, Miyata M, Numa S, et al.

International journal of retina and vitreous 2019; (5(Suppl 1)):23 doi:10.1186/s40942-019-0173-z.

Interventions Within the Scope of Occupational Therapy Practice to Improve Performance of Daily Activities for Older Adults With Low Vision: A Systematic Review.

Liu CJ, Chang MC

The American journal of occupational therapy : official publication of the American Occupational Therapy Association 2020; (74(1)):7401185010p1-7401185010p18 doi:10.5014/ajot.2020.038372.

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.

Tebbe L, Kakakhel M, Makia MS, et al.

Cells 2020; (9(3)) doi:10.3390/cells9030784.

Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis.

Ruberto G, Guagliano R, Barillà D, et al.

International ophthalmology 2020; (40(10)):2523-2534 doi:10.1007/s10792-020-01432-2.

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

Coco-Martin RM, Sanchez-Tocino HT, Desco C, et al.

Genes 2020; (11(7)) doi:10.3390/genes11070773.

ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.

Strayve D, Makia MS, Kakakhel M, et al.

Human molecular genetics 2020; (29(16)):2708-2722 doi:10.1093/hmg/ddaa160.

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.

Hull S, Kiray G, Chiang JP, Vincent AL

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(3)):708-717 doi:10.1002/ajmg.c.31836.

Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies.

Olivares-González L, Velasco S, Campillo I, Rodrigo R

International journal of molecular sciences 2021; (22(4)) doi:10.3390/ijms22042096.

The Effect of Magnification and Contrast on Reading Performance in Different Types of Simulated Low Vision.

Christen M, Abegg M

Journal of eye movement research 2016; (10(2)) doi:10.16910/jemr.10.2.5.

Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA.

Albertos-Arranz H, Sánchez-Sáez X, Martínez-Gil N, et al.

Diagnostics (Basel, Switzerland) 2021; (11(5)) doi:10.3390/diagnostics11050777.

Artificial intelligence for diagnosis of inherited retinal disease: an exciting opportunity and one step forward.

Tan TE, Chan HW, Singh M, et al.

The British journal of ophthalmology 2021; (105(9)):1187-1189 doi:10.1136/bjophthalmol-2021-319365.

Low vision rehabilitation in improving the quality of life for patients with impaired vision: A systematic review and meta-analysis of 52 randomized clinical trials.

Liu J, Dong J, Chen Y, et al.

Medicine 2021; (100(19)):e25736 doi:10.1097/MD.0000000000025736.

Measuring the Contrast Sensitivity Function in Non-Neovascular and Neovascular Age-Related Macular Degeneration: The Quantitative Contrast Sensitivity Function Test.

Vingopoulos F, Wai KM, Katz R, et al.

Journal of clinical medicine 2021; (10(13)) doi:10.3390/jcm10132768.

Current Modalities for Low Vision Rehabilitation.

Agarwal R, Tripathi A

Cureus 2021; (13(7)):e16561 doi:10.7759/cureus.16561.

PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.

Choi H, Cloutier A, Lally D

Ophthalmic genetics 2022; (43(2)):235-239 doi:10.1080/13816810.2021.2015790.

Fixation Stability and Preferred Retinal Locus in Advanced Age-Related Macular Degeneration

Altınbay D, İdil ŞA

Turkish journal of ophthalmology 2022; (52(1)):23-29 doi:10.4274/tjo.galenos.2021.27985.

New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.

Kazmierczak de Camargo JP, Prezia GNB, Shiokawa N, et al.

Frontiers in genetics 2022; (13()):886461 doi:10.3389/fgene.2022.886461.

Oxidative Stress as a Main Contributor of Retinal Degenerative Diseases.

Pinilla I, Maneu V

Antioxidants (Basel, Switzerland) 2022; (11(6)) doi:10.3390/antiox11061190.

Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes.

Antonelli G, Parravano M, Barbano L, et al.

Diagnostics (Basel, Switzerland) 2022; (12(8)) doi:10.3390/diagnostics12081851.

LONG-TERM FOLLOW-UP OF PRPH2 -ASSOCIATED RETINAL DYSTROPHY.

Zhao Z, Miere A, Le HM, Souied EH

Retinal cases & brief reports 2024; (18(2)):236-241 doi:10.1097/ICB.0000000000001351.

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Daich Varela M, Bellingham J, Motta F, et al.

Human molecular genetics 2023; (32(4)):595-607 doi:10.1093/hmg/ddac227.

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.

Tehreem R, Chen I, Shah MR, et al.

Genes 2022; (13(9)) doi:10.3390/genes13091630.

Cellular and molecular alterations in neurons and glial cells in inherited retinal degeneration.

Martínez-Gil N, Maneu V, Kutsyr O, et al.

Frontiers in neuroanatomy 2022; (16()):984052 doi:10.3389/fnana.2022.984052.

Modulating antioxidant systems as a therapeutic approach to retinal degeneration.

Ren X, Léveillard T

Redox biology 2022; (57()):102510 doi:10.1016/j.redox.2022.102510.

Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Lynn J, Raney A, Britton N, et al.

Genes 2022; (14(1)) doi:10.3390/genes14010074.

MULTIMODAL RETINAL IMAGING REVEALS NEW PATHOGENIC INSIGHTS IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY: A CASE SERIES.

Romano F, Cozzi E, Boon CJF, et al.

Retinal cases & brief reports 2024; (18(1)):32-38 doi:10.1097/ICB.0000000000001325.

Electrophysiological Evaluation of Macular Dystrophies.

Chiang TK, Yu M

Journal of clinical medicine 2023; (12(4)) doi:10.3390/jcm12041430.

CDHR1-Related Cone-Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results-A Case Report.

Sobolewska M, Świerczyńska M, Dorecka M, et al.

Medicina (Kaunas, Lithuania) 2023; (59(2)) doi:10.3390/medicina59020399.

The Role of Peripherin-2/ROM1 Complexes in Photoreceptor Outer Segment Disc Morphogenesis.

Lewis TR, Al-Ubaidi MR, Naash MI, Arshavsky VY

Advances in experimental medicine and biology 2023; (1415()):277-281 doi:10.1007/978-3-031-27681-1_40.

Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.

Ruiz-Pastor MJ, Sánchez-Sáez X, Kutsyr O, et al.

Cell death & disease 2023; (14(11)):711 doi:10.1038/s41419-023-06243-8.

Structure-function correlation of retinal photoreceptors in PRPH2-associated central areolar choroidal dystrophy patients assessed by high-resolution scanning laser imaging and microperimetry.

Mulders T, van der Zanden L, Klevering BJ, et al.

Acta ophthalmologica 2024; (102(5)):521-528 doi:10.1111/aos.15816.

The endoplasmic reticulum: Homeostasis and crosstalk in retinal health and disease.

Zhang SX, Wang JJ, Starr CR, et al.

Progress in retinal and eye research 2024; (98()):101231 doi:10.1016/j.preteyeres.2023.101231.

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Heath Jeffery RC, Thompson JA, Lo J, et al.

Investigative ophthalmology & visual science 2024; (65(5)):22 doi:10.1167/iovs.65.5.22.

Progression Rate of Macular Retinal Pigment Epithelium Atrophy in Geographic Atrophy and Selected Inherited Retinal Dystrophies. A Systematic Review and Meta-Analysis.

Bassil FL, Colijn JM, Thiadens AAHJ, Biarnés M

American journal of ophthalmology 2025; (269()):30-48 doi:10.1016/j.ajo.2024.07.035.

Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.

Seddon JM, De D, Grunenkovaite L, Ferrara D

Investigative ophthalmology & visual science 2024; (65(14)):31 doi:10.1167/iovs.65.14.31.

Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

Lee BJH, Sun CZY, Ong CJT, et al.

Taiwan journal of ophthalmology 2024; (14(4)):486-496 doi:10.4103/tjo.TJO-D-24-00066.

Expanding the Mutation Spectrum for Inherited Retinal Diseases.

Lynn J, Huang SJ, Trigler GK, et al.

Genes 2024; (16(1)) doi:10.3390/genes16010032.

Light as a Mediator of Acute and Chronic Retina Degeneration.

Guarascio R, Cheetham ME

Advances in experimental medicine and biology 2025; (1468()):247-251 doi:10.1007/978-3-031-76550-6_41.

Retinal Thickness Analysis Using Optical Coherence Tomography: Diagnostic and Monitoring Applications in Retinal Diseases.

Ahn SJ

Diagnostics (Basel, Switzerland) 2025; (15(7)) doi:10.3390/diagnostics15070833.

Benefits, limitations, and impacts of reproductive carrier screening and telehealth-based genetic counseling for individuals with an increased chance to have a child with a genetic condition.

Hardy MW, Bruder K, Rosen A, et al.

Journal of genetic counseling 2025; (34(3)):e70002 doi:10.1002/jgc4.70002.

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant.

Zhai Y, Kodida R, Ballios BG

American journal of ophthalmology case reports 2025; (39()):102360 doi:10.1016/j.ajoc.2025.102360.

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.

Fernández-Suárez E, González-Del Pozo M, Méndez-Vidal C, et al.

NPJ genomic medicine 2025; (10(1)):52 doi:10.1038/s41525-025-00500-9.

Elevating Jak-STAT signaling via SOCS3 deletion sustains photoreceptor viability and visual function in mouse models of retinitis pigmentosa.

Wang Y, Nusinowitz S, Yang XJ

Research square 2025; doi:10.21203/rs.3.rs-7089882/v1.

Vision rehabilitation of patients with retinitis pigmentosa.

Shah M, Tariq Y

Clinical & experimental optometry 2026; (109(2)):215-220 doi:10.1080/08164622.2025.2522178.

Importance of Screening for Contrast Sensitivity, Falls, and Mobility Limitations in Older Adults With Maculopathy.

Agathos CP, Shanidze NM, Fletcher DC

American journal of ophthalmology 2025; (280()):481-492 doi:10.1016/j.ajo.2025.08.051.

Prime editing for the investigation of aberrant splicing defect associated with a pathogenic PRPH2 variant.

Lopes da Costa B, Helms KM, Theodore K, et al.

Molecular therapy. Nucleic acids 2025; (36(4)):102740 doi:10.1016/j.omtn.2025.102740.

EARLY FINDINGS FROM A NATURAL HISTORY STUDY OF PATIENTS WITH THE PATHOGENIC p.Gly208Asp PRPH2 VARIANT ASSOCIATED WITH RETINAL DYSTROPHY.

AlAshwal SM, Kako R, Kalaw FGP, et al.

Retina (Philadelphia, Pa.) 2026; (46(3)):521-532 doi:10.1097/IAE.0000000000004712.

Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.

Abiib S, Khodjet-El-Khil H, Bux RI, et al.

Genes 2025; (16(12)) doi:10.3390/genes16121415.

Mapping the Outcomes of Low-Vision Rehabilitation: A Scoping Review of Interventions, Challenges, and Research Gaps.

Ekemiri K, Adebo O, Ekemiri C, et al.

Vision (Basel, Switzerland) 2026; (10(1)) doi:10.3390/vision10010003.

CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort.

Takács Á, Varsányi B, Barboni M, et al.

Genes 2026; (17(1)) doi:10.3390/genes17010102.

An interdisciplinary Inherited Retinal Disease clinic improves time to genetic diagnosis and access to genetics services.

Goldin MR, Suh H, Kessler C, et al.

Ophthalmic genetics 2026; (47(3)):268-274 doi:10.1080/13816810.2026.2624617.