ArticleThe British journal of ophthalmology2001
Ophthalmic manifestations of tuberous sclerosis: a population based study.
Article in The British journal of ophthalmology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 246 citations in OpenAlex.
- A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).Orphanet journal of rare diseases · 2020Pooled it
- Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.Clinical case reports · 2026Article
- Ophthalmic screening in phakomatoses.Frontiers in cell and developmental biology · 2026Article
- Advantages of optical coherence tomography in assessing retinal astrocytic hamartomas in children with tuberous sclerosis complex.Frontiers in medicine · 2026Article
- Spontaneous Regression of a Retinal Astrocytic Hamartoma in an Adolescent With Tuberous Sclerosis Complex.Cureus · 2025Article
- Tuberous Sclerosis.Advances in experimental medicine and biology · 2025Article
- Neuro-Ophthalmic Characteristics of Patients with Tuberous Sclerosis Complex at a Tertiary Care Referral Centre.Neuro-ophthalmology (Aeolus Press) · 2025Article
- Ovoid foveal hyperreflective lesions as a sign of familial adenomatous polyposis: A case series and review.American journal of ophthalmology case reports · 2024Article
- Ocular manifestations of renal ciliopathies.Pediatric nephrology (Berlin, Germany) · 2024Review
- Retinal astrocytic hamartoma complicated by branch retinal vein occlusion in a patient with tuberous sclerosis complex.American journal of ophthalmology case reports · 2023Article
- Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT-SS description.Clinical case reports · 2023Article
- Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.Yonsei medical journal · 2023Article
- Mammalian target of rapamycin inhibitors for the treatment of astrocytic hamartoma in tuberous sclerosis complex (TSC).Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- Utility of multimodal ocular imaging in tuberous sclerosis complex-Review of literature along with a case illustration.Indian journal of ophthalmology · 2022Review
- [Syndroms associated with benign skin tumors].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2022Review
- Long-term efficacy and safety of sirolimus for retinal astrocytic hamartoma associated with tuberous sclerosis complex.Frontiers in cell and developmental biology · 2022Article
- Monitoring and Managing Patients with Tuberous Sclerosis Complex: Current State of Knowledge.Journal of multidisciplinary healthcare · 2022Review
- Peripheral bright streaks in tuberous sclerosis.American journal of ophthalmology case reports · 2021Article
- Tuberous Sclerosis Complex.Indian journal of pediatrics · 2021Article
- Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimsTuberous sclerosis complex (TSC) has retinal and non-retinal ophthalmic manifestations. This study was designed to determine the prevalence of the ophthalmic manifestations and of refractive errors in a population of patients with TSC.
methods179 patients identified were in a prevalence study of TSC in the south of England and 107 of these agreed to full ophthalmic examination which was successful in 100. Ophthalmic examination included examination of the eyelids, cover test, examination of the irides, dilation funduscopy using both direct and indirect ophthalmoscopy, and refraction using retinoscopy. Myopia was defined as a spherical equivalent <-0.5D and hyperopia as a spherical equivalent >+0.5D.
resultsRetinal hamartomas were seen in 44 of the 100 patients. The commonest morphological type of hamartoma seen was the flat, translucent lesion in 31 of the 44 patients (70%). The multinodular "mulberry" lesion was seen in 24 of the 44 patients (55%) and the transitional type lesion was seen in four of the 44 patients (9%). Punched out areas of retinal depigmentation were seen in 39 of the 100 patients but only six of 100 controls. 27% of eyes were myopic, 22% were hyperopic, and 27% had astigmatism >0.75D. Of the non-retinal findings, 39 patients had angiofibromas of the eyelids, five had non-paralytic strabismus, and three had colobomas.
conclusionApart from the higher prevalence of flat retinal hamartomas, the findings of this study compare closely with previous large clinic based series of TSC patients. Refractive findings were similar to previous studies of a similarly aged non-TSC population. This is the first series to document the statistically significant association of punched out chorioretinal depigmentation with TSC and the authors believe that it should be looked for as an aid to diagnosis.
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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.