Research & Literature

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.

Chou CM, Nelson C, Tarlé SA, et al.

Cell 2015; (161(3)):634-646 doi:10.1016/j.cell.2015.03.006.

Bicyclic [3.3.0]-Octahydrocyclopenta[c]pyrrolo Antagonists of Retinol Binding Protein 4: Potential Treatment of Atrophic Age-Related Macular Degeneration and Stargardt Disease.

Cioffi CL, Racz B, Freeman EE, et al.

Journal of medicinal chemistry 2015; (58(15)):5863-88 doi:10.1021/acs.jmedchem.5b00423.

STRA6: role in cellular retinol uptake and efflux.

Kelly M, von Lintig J

Hepatobiliary surgery and nutrition 2015; (4(4)):229-42 doi:10.3978/j.issn.2304-3881.2015.01.12.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Marcadier JL, Mears AJ, Woods EA, et al.

American journal of medical genetics. Part A 2016; (170A(1)):11-8 doi:10.1002/ajmg.a.37389.

Severe ocular phenotypes in Rbp4-deficient mice in the C57BL/6 genetic background.

Shen J, Shi D, Suzuki T, et al.

Laboratory investigation; a journal of technical methods and pathology 2016; (96(6)):680-91 doi:10.1038/labinvest.2016.39.

Transport of vitamin A across blood-tissue barriers is facilitated by STRA6.

Kelly M, Widjaja-Adhi MA, Palczewski G, von Lintig J

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2016; (30(8)):2985-95 doi:10.1096/fj.201600446R.

Biomarkers of Nutrition for Development (BOND)-Vitamin A Review.

Tanumihardjo SA, Russell RM, Stephensen CB, et al.

The Journal of nutrition 2016; (146(9)):1816S-48S doi:10.3945/jn.115.229708.

[Ophthalmological rehabilitation of visually impaired children].

Altpeter EK, Nguyen NX

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2017; (114(7)):625-631 doi:10.1007/s00347-016-0391-9.

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

Khan KN, Carss K, Raymond FL, et al.

Ophthalmic genetics 2017; (38(5)):465-466 doi:10.1080/13816810.2016.1227453.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Taylor RL, Parry NRA, Barton SJ, et al.

Ophthalmology 2017; (124(7)):985-991 doi:10.1016/j.ophtha.2017.02.005.

Retinitis Pigmentosa and Other Dystrophies.

Mrejen S, Audo I, Bonnel S, Sahel JA

Developments in ophthalmology 2017; (58()):191-201 doi:10.1159/000455281.

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.

Sadowski S, Chassaing N, Gaj Z, et al.

Birth defects research 2017; (109(4)):251-253 doi:10.1002/bdra.23465.

Hospital anxiety and depression scale assessment of 100 patients before and after using low vision care: A prospective study in a tertiary eye-care setting.

Rishi P, Rishi E, Maitray A, et al.

Indian journal of ophthalmology 2017; (65(11)):1203-1208 doi:10.4103/ijo.IJO_436_17.

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.

Suppiej A, Marino S, Reffo ME, et al.

Italian journal of pediatrics 2019; (45(1)):168 doi:10.1186/s13052-019-0760-5.

Regulatory mechanism for the transmembrane receptor that mediates bidirectional vitamin A transport.

Zhong M, Kawaguchi R, Costabile B, et al.

Proceedings of the National Academy of Sciences of the United States of America 2020; (117(18)):9857-9864 doi:10.1073/pnas.1918540117.

A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.

Cehajic-Kapetanovic J, Jasani KM, Shanks M, et al.

Ophthalmic genetics 2020; (41(3)):288-292 doi:10.1080/13816810.2020.1755985.

Genetic testing for inherited retinal degenerations: Triumphs and tribulations.

Branham K, Schlegel D, Fahim AT, Jayasundera KT

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(3)):571-577 doi:10.1002/ajmg.c.31835.

DISRUPTION OF THE OUTER SEGMENTS OF THE PHOTORECEPTORS ON OPTICAL COHERENCE TOMOGRAPHY AS A FEATURE OF VITAMIN A DEFICIENCY.

Jevnikar K, Šuštar M, Kozjek NR, et al.

Retinal cases & brief reports 2022; (16(5)):658-662 doi:10.1097/ICB.0000000000001060.

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.

Lorenz B, Tavares J, van den Born LI, et al.

Ophthalmic research 2021; (64(4)):622-638 doi:10.1159/000514540.

Biological Functions of RBP4 and Its Relevance for Human Diseases.

Steinhoff JS, Lass A, Schupp M

Frontiers in physiology 2021; (12()):659977 doi:10.3389/fphys.2021.659977.

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.

Stephenson KAJ, Zhu J, Wynne N, et al.

Orphanet journal of rare diseases 2021; (16(1)):200 doi:10.1186/s13023-021-01841-1.

Structural evaluation in inherited retinal diseases.

Daich Varela M, Esener B, Hashem SA, et al.

The British journal of ophthalmology 2021; (105(12)):1623-1631 doi:10.1136/bjophthalmol-2021-319228.

The electroretinogram in the genomics era: outer retinal disorders.

Cornish EE, Vaze A, Jamieson RV, Grigg JR

Eye (London, England) 2021; (35(9)):2406-2418 doi:10.1038/s41433-021-01659-y.

The vitamin A transporter STRA6 adjusts the stoichiometry of chromophore and opsins in visual pigment synthesis and recycling.

Ramkumar S, Parmar VM, Samuels I, et al.

Human molecular genetics 2022; (31(4)):548-560 doi:10.1093/hmg/ddab267.

Retinol binding protein 4 antagonists and protein synthesis inhibitors: Potential for therapeutic development.

Kim N, Priefer R

European journal of medicinal chemistry 2021; (226()):113856 doi:10.1016/j.ejmech.2021.113856.

Retinoid Homeostasis and Beyond: How Retinol Binding Protein 4 Contributes to Health and Disease.

Steinhoff JS, Lass A, Schupp M

Nutrients 2022; (14(6)) doi:10.3390/nu14061236.

Plasma Retinoid Concentrations Are Altered in Pregnant Women.

Czuba LC, Fay EE, LaFrance J, et al.

Nutrients 2022; (14(7)) doi:10.3390/nu14071365.

Retinal Detachments Associated With Topical Pilocarpine Use for Presbyopia.

Al-Khersan H, Flynn HW, Townsend JH

American journal of ophthalmology 2022; (242()):52-55 doi:10.1016/j.ajo.2022.05.011.

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics.

Britten-Jones AC, O'Hare F, Edwards TL, et al.

Clinical & experimental ophthalmology 2022; (50(7)):768-780 doi:10.1111/ceo.14110.

Significantly Reduced Retinol Binding Protein 4 (RBP4) Levels in Critically Ill COVID-19 Patients.

Vollenberg R, Tepasse PR, Fobker M, Hüsing-Kabar A

Nutrients 2022; (14(10)) doi:10.3390/nu14102007.

Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy.

Smirnov VM, Wilmet B, Nassisi M, et al.

International journal of molecular sciences 2022; (23(12)) doi:10.3390/ijms23126590.

Approach to inherited retinal diseases.

Ratra D, Ozdek S, Raviselvan M, et al.

Indian journal of ophthalmology 2022; (70(7)):2305-2315 doi:10.4103/ijo.IJO_314_22.

Impact of inherited retinal diseases on Canadian patients and families: a mixed-methods study.

Kherani IZ, Andrews C, Pereira JA, et al.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2023; (58(6)):532-538 doi:10.1016/j.jcjo.2022.06.021.

RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations.

Kessel L, Bertelsen M, Grønskov K

Ophthalmic genetics 2022; (43(6)):876-881 doi:10.1080/13816810.2022.2141789.

Products of the visual cycle are detected in mice lacking retinol binding protein 4, the only known vitamin A carrier in plasma.

Montenegro D, Zhao J, Kim HJ, et al.

The Journal of biological chemistry 2022; (298(12)):102722 doi:10.1016/j.jbc.2022.102722.

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net.

Lorenz B, Tavares J, van den Born LI, et al.

Ophthalmic research 2023; (66(1)):550-568 doi:10.1159/000528716.

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.

Nguyen XT, Moekotte L, Plomp AS, et al.

International journal of molecular sciences 2023; (24(8)) doi:10.3390/ijms24087481.

Multimodal Imaging Study of Patients With Vitamin A Deficiency Retinopathy.

Pichi F, Aljneibi S, Neri P, et al.

Ophthalmic surgery, lasers & imaging retina 2023; (54(6)):330-336 doi:10.3928/23258160-20230513-01.

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.

Murro V, Banfi S, Testa F, et al.

Orphanet journal of rare diseases 2023; (18(1)):223 doi:10.1186/s13023-023-02798-z.

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.

Plaisancié J, Martinovic J, Chesneau B, et al.

Journal of medical genetics 2023; (61(1)):84-92 doi:10.1136/jmg-2023-109331.

Characteristics of Vitamin A Deficiency Retinopathy at a Tertiary Referral Center in the United States.

Levine DA, Mathew NE, Jung EH, et al.

Ophthalmology. Retina 2024; (8(2)):126-136 doi:10.1016/j.oret.2023.08.021.

Vitamin A biomarkers were associated with α(1)-acid glycoprotein and C-reactive protein over the course of a human norovirus challenge infection.

Victor CP, Leon JS, Williams AM

The British journal of nutrition 2024; (131(3)):482-488 doi:10.1017/S0007114523002076.

Protocol for the treatment of cystoid macular edema secondary to retinitis pigmentosa and other inherited retinal dystrophies.

Català-Mora J, Santamaría Álvarez JF, Kyriakou D, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2024; (99(2)):67-81 doi:10.1016/j.oftale.2023.11.001.

Vitamin A deficiency retinopathy in the setting of celiac disease and liver fibrosis.

Pereira A, Wright T, Weisbrod D, Ballios BG

Documenta ophthalmologica. Advances in ophthalmology 2024; (149(2)):125-131 doi:10.1007/s10633-024-09978-7.

Methodology for Studying Interactions of Vitamin A Membrane Receptors and Opsin Protein with their Ligands in Generating the Retinylidene Protein.

Radhakrishnan R, Lor A, Li D, et al.

Journal of visualized experiments : JoVE 2024; doi:10.3791/67036.

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Marques JP, Soares CA, Carvalho AL, et al.

Clinical genetics 2025; (107(6)):600-611 doi:10.1111/cge.14691.

[Inherited retinal disorders: clinical and molecular genetic diagnostic].

Kellner U, Pfau K

Klinische Monatsblatter fur Augenheilkunde 2025; (242(6)):677-697 doi:10.1055/a-2274-5801.

Managing Retinitis Pigmentosa: A Literature Review of Current Non-Surgical Approaches.

Colombo L, Baldesi J, Martella S, et al.

Journal of clinical medicine 2025; (14(2)) doi:10.3390/jcm14020330.

"My child can't see"-workup and management of children with low vision: a joint workshop of the AAPOS Low Vision Rehabilitation and Genetic Eye Diseases Committees.

Ditta L, Utz VM, Chandna A, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2025; (29(3)):104229 doi:10.1016/j.jaapos.2025.104229.

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.

Measuring historical variant reclassification in inherited retinal disease and its impact on clinical genetic testing.

Kern K, Gordon A, Drackley A, et al.

Ophthalmic genetics 2026; (47(1)):35-42 doi:10.1080/13816810.2025.2568002.

Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.

Asboth B, Sanrocco A, Besztercei B, et al.

Genes 2025; (16(10)) doi:10.3390/genes16101212.

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.

Voicing the unseen: understanding communication barriers in inherited retinal diseases.

Lee N, Nguyen BN, Chen RT, et al.

Disability and rehabilitation 2026; 1-17 doi:10.1080/09638288.2026.2669998.

Risk of Ocular Comorbidities in Patients With Inherited Retinal Diseases.

Abbass NJ, Regueiro M, Kaelber DC, et al.

Ophthalmic surgery, lasers & imaging retina 2026; (57(6)):355-360 doi:10.3928/23258160-20260323-02.

Progressive Retinal and Neurologic Findings in a Family With Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.

Naveed F, Al-Burak SA, Hashemi E, et al.

Journal of vitreoretinal diseases 2026; 24741264261463171 doi:10.1177/24741264261463171.

Maternal nutrition determines the variable expressivity of STRA6-associated eye malformations.

Saadane A, von Lintig J

Proceedings of the National Academy of Sciences of the United States of America 2026; (123(32)):e2608068123 doi:10.1073/pnas.2608068123.

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Harford D, Conway M, Moran B, et al.

Genes 2026; (17(8)) doi:10.3390/genes17080979.

Global Patterns of Visual Disability and Low Vision Aid Prescription: A Systematic Review.

Verma V, Gupta S, Singh P, et al.

Cureus 2026; (18(7)):e113756 doi:10.7759/cureus.113756.

Structural and biochemical basis for retinol-binding protein 4 antagonism by tinlarebant.

Bassetto M, Kiser PD

British journal of pharmacology 2026; doi:10.1111/bph.70687.