ReviewJournal of ophthalmology2016
An Update on the Ophthalmologic Features in the Phakomatoses.
Review in Journal of ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 39 citations in OpenAlex.
- Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome: Correlation between Clinical Features, Imaging, and Treatment Response.Ocular oncology and pathology · 2026Article
- Prevalence of glaucoma and characteristics of ocular manifestations in patients with Naevus of Ota.BMJ open ophthalmology · 2025Article
- Multimodal Imaging Characteristics and Diagnostic Value of Choroidal Nodules in Patients with Neurofibromatosis Type 1.Turkish journal of ophthalmology · 2024Article
- An update on ophthalmological perspectives in oculodermal melanocytosis (Nevus of Ota).Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Review
- Choroidal Melanocytic Hamartoma.Journal of clinical medicine · 2022Article
- An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).International ophthalmology · 2022Review
- Neuroretinal dysfunction in patients affected by neurofibromatosis type 1.International journal of ophthalmology · 2022Article
- Neurofibromatosis Type 1 in Children: A Single-Center Experience.Turkish archives of pediatrics · 2021Article
- Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene.Experimental and therapeutic medicine · 2021Article
- Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients.Journal of ophthalmology · 2021Review
- Retinal cafe-au-lait macules: A rare retinal finding in a patient with neurofibromatosis type 1.Indian journal of ophthalmology · 2019Article
- Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives.Eye and brain · 2019Article
- Neurofibromin Deficiency Induces Endothelial Cell Proliferation and Retinal Neovascularization.Investigative ophthalmology & visual science · 2018Article
- Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?Orphanet journal of rare diseases · 2018Article
- Unusual Case of Indolent Choroidal Alterations Mimicking Neurofibromatosis Type 1.Case reports in ophthalmologyArticle
- Optical Coherence Tomography of Choroid in Common Neurological Diseases.In vivo (Athens, Greece)Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations. The advent of novel imaging techniques such as near infrared reflectance and optical coherence tomography has provided unprecedented insight on the choroidal and retinal features of these diseases. These methods have improved early diagnosis and the ongoing surveillance in these conditions. Among an array of treatment modalities, antivascular endothelial growth factor therapy has been used in the management of retinal hamartomas but results have been varied. This review is an update on the pathophysiogenetic mechanisms, ophthalmic manifestations, and novel treatment strategies in the phakomatoses with emphasis on the role of imaging techniques.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.