|
Current issue
Archive
Videos
Articles in press
About the journal
Supplements
Editorial board
Reviewers
Abstracting and indexing
Subscription
Contact
Instructions for authors
Publication charge
Ethical standards and procedures
Editorial System
Submit your Manuscript
|
4/2025
vol. 127 Review article
Ocular phakomatoses in children
Mirosława Grałek
1
,
Anna Niwald
1
KLINIKA OCZNA 2025, 127, 4: 157-162
Online publish date: 2025/12/23
Get citation
ENW EndNote
BIB JabRef, Mendeley
RIS Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
1. Van der Hoeve J. The Doyne Memorial Lecture. Eye symptoms in phakomatosis. Trans Ophthalmol Soc UK 1932; 52: 380-401. 2.
Douglas KA, Douglas VP, Cestari DM. Neuro-ophthalmic manifestations of the phakomatoses. Curr Opin Ophthalmol 2019; 30: 434-444. 3.
Heidary G.Neuro-Ophthalmic Manifestations of Pediatric Neurodegenerative Disease. J Neuroophthalmol 2017; 37 Suppl. 1: S4-S13. 4.
Chan JW. Neuro-ophthalmic features of the neurocutaneous syndromes. Int Ophthalmol Clin 2012; 52: 73-85. 5.
Korf BR. The phacomatoses. Clin Dermatol 2005; 32: 78-84. 6.
Elbeltagy M, Abbassy M. Neurofibromatosis type 1, type 2, tuberous sclerosis and Von Hippel-Lindau disease. Childs Nerv Syst 2023; 39: 2791-2806. 7.
Pietrzak MK, Kacprzak A, Mazur M, Jóźwiak S. Zespół Sturge’a-Webera – aktualne rekomendacje diagnostyczno-terapeutyczne. Child Neurology 2015; 25: 101-108. 8.
Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. 1. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26: 704-711. 9.
Jentarra G, Snyder SL, Narayanan V. Genetic aspects of neurocuteneous disorders. Semin Pediatr Neurol 2006; 13: 43-47. 10.
Grałek M, Piasecka K, Wasyliszyn-Sieroszewska K, Niwald A. Zmiany w narządzie wzroku w neurofibromatozie typu 1 w wieku rozwojowym. Klin Oczna 2024; 126: 119-123. 11.
Domańska-Pakiela D, Kotulska K, Jóźwiak S. Stwardnienie guzowate: postępy w diagnostyce i leczeniu. Neurologia Dziecięca 2008; 17: 11-22. 12.
Boley S, Sloan JL, Pemov A, Stewart DR. A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1. Invest Ophthalmol Vis Sci 2009; 50: 5035-5043. 13.
Akinci A, Acaroglu G, Guven A. Refractive errors in neurofibromatosis type 1 and type 2. Br J Ophthalmol 2007; 91: 746-748. 14.
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006; 355: 1345-1356. 15.
Sofoudis C, Kalampokas T, Boutas I, et al. Morbus Bourneville: a case report and review of the literature. Clin Exp Obstet Gynecol 2014; 41: 95-97. 16.
Ben-Skowronek I, Kozaczuk. Von Hippel-Lindau syndrome. Horm Res Paediatr 2015; 84: 145-152. 17.
Kofla-Dłubacz A, Stawarski A, Pytrus T, Gil J. Fakomatozy – znaczenie badań genetycznych dla personalizacji postępowania klinicznego (część 1.). Nowotwory 2021; 71: 420-426. 18.
Evans DG, Howard H, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet Part A 2010; 152A: 327-332. 19.
Becker B, Strowd RE. 3. The phakomatoses. Dermatol Clin 2019; 37: 583-606.
|