The Ocular Manifestations of the Sturge-Weber Syndrome

Abstract Background Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma. Case presentation We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic “tomato catsup fundus” appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks. Conclusion This is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

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Ocular Manifestations in Neurocutaneous Syndromes with Emphasis on Neurofibromatosis – A Descriptive Observational Study

Journal of Evidence Based Medicine and Healthcare ◽

10.18410/jebmh/2021/100 ◽

2021 ◽

Vol 8 (9) ◽

pp. 512-516

Author(s):

Sija Sudha ◽

Deepa Molathe Gopalan

Keyword(s):

Tuberous Sclerosis ◽

Positive Family History ◽

Care Hospital ◽

Phaces Syndrome ◽

Ocular Manifestations ◽

Study Results ◽

Weber Syndrome ◽

Sturge Weber Syndrome ◽

Neurocutaneous Syndromes ◽

Ocular Finding

BACKGROUND Neurocutaneous syndromes (NCS) are a group of genetic disorders that produce a variety of developmental abnormalities of the eye. Ophthalmic manifestations usually appear early in life and progress with time. The study was conducted to know the prevalence of ocular manifestations in neurocutaneous syndromes with emphasis on neurofibromatosis. METHODS This study was conducted in ophthalmology department at a tertiary care hospital during a period of 2 years among 30 patients. All phakomatoses referred from other specialty departments for ophthalmological evaluation and cases diagnosed in ophthalmology department during routine evaluation were included in the study. RESULTS Neurofibromatosis type 1 (NF-1) accounted for most of (66.67 %) the cases followed by Sturge Weber syndrome (SWS) (20 %). Majority (55 %) of NF-1 and 83.33 % of SWS and all patients of other phakomatoses were in the age group < 30 yrs. 55 % of NF-1 patients were males. 65 % of NF-1 patients gave positive family history. Lisch nodules, the most common ocular finding in NF-1 were present in 85 % of patients and of these 82 % were bilateral. Medullated nerve fibre was seen in 10 % of patients. Glaucoma was seen in 66.67 % of Sturge Weber syndrome patients. Conjunctional telangiectasia was seen in 16.67 % of Sturge Weber syndrome patients. Seizures and radiological features were seen in most patients with Sturge Weber syndrome. Megalocornea with normal intraocular pressure (IOP) was seen in both of our patients with posterior fossa malformations, haemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities (PHACES syndrome). Eyelid coloboma, ectropion uvea, hyperchromia iridis & myopia was seen in one patient with PHACES syndrome. A case of tuberous sclerosis had many systemic features like calcified subependymal nodules, renal angiomyolipomas, skin features and the only ocular finding was hypopigmented iris spots. CONCLUSIONS Ophthalmologist has a role in early recognition of the neurocutaneous syndrome from specific ocular features (like Lisch nodule in NF-1), reducing ocular morbidity by timely treatment (of conditions like glaucoma) and prompt referral to concerned speciality for management of systemic involvement. KEYWORDS Neurofibromatosis, Sturge Weber Syndrome, Tuberous Sclerosis

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The Ocular Manifestations of the Sturge-Weber Syndrome

Southern Medical Journal ◽

10.1097/00007611-195701000-00013 ◽

1957 ◽

Vol 50 (1) ◽

pp. 82-89 ◽

Cited By ~ 11

Author(s):

J JACK STORES

Keyword(s):

Ocular Manifestations ◽

Weber Syndrome ◽

Sturge Weber Syndrome

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Ocular manifestations of Sturge–Weber syndrome

Current Opinion in Ophthalmology ◽

10.1097/icu.0000000000000597 ◽

2019 ◽

Vol 30 (5) ◽

pp. 301-305 ◽

Cited By ~ 2

Author(s):

Marlee Silverstein ◽

Jonathan Salvin

Keyword(s):

Ocular Manifestations ◽

Weber Syndrome ◽

Sturge Weber Syndrome

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Spherophakia and Ectopia Lentis in a Sturge-Weber Patient: A Case Report

Case Reports in Ophthalmology ◽

10.1159/000508064 ◽

2020 ◽

Vol 11 (2) ◽

pp. 356-363

Author(s):

Samuel Josue Avalos-Lara ◽

Bani Antonio-Aguirre ◽

Andric C. Perez-Ortiz ◽

Cristina Mendoza Velásquez ◽

Azyadeh Camacho-Ordoñez ◽

...

Keyword(s):

Vascular Malformations ◽

Anterior Segment ◽

Ectopia Lentis ◽

Lens Extraction ◽

Ocular Manifestations ◽

Weber Syndrome ◽

Novel Association ◽

Sturge Weber Syndrome ◽

Hallmark Feature ◽

Lens Luxation

Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder, primarily characterized by port-wine stain (PWS) over the ophthalmic division of the trigeminal nerve (V1) territory (hallmark feature) and glaucoma (in 30–60% of cases). Other ocular manifestations include episcleral involvement of the PWS, choroidal vascular malformations, and iris heterochromia. Two previous reports also associated ectopia lentis concomitantly among these cases. However, here we report spherophakia as a novel ophthalmological finding in SWS. A 56-year-old female previously diagnosed with SWS presented to the outpatient clinic complaining of right-sided decreased visual acuity and pain after a fall. Phenotypically, the patient had a PWS around V1 territory and involvement of both eyelids. Previous relevant ocular history included retinal detachment without macular involvement, ocular hypertension, and phacodonesis. The slit-lamp examination showed anterior lens luxation and elevated intraocular pressure (IOP) of 40 mm Hg by tonometry. Prior to the surgical approach, the patient received hypotensive treatment for elevated IOP. After intracapsular lens extraction, measurements were consistent with spherophakia. Postoperatively, the patient underwent optical coherence tomography (OCT). There was cystic macular edema (CME) by OCT and a detached posterior hyaloid membrane. The patient fully recovered with topical treatment of bromfenac for CME. To the best of our knowledge, this is the first report of concomitant anterior lens luxation and spherophakia (novel association) in a SWS patient. Our findings supplement the differential ocular diagnoses in SWS and should be considered in the routine ocular exam, specifically of the anterior segment. CME occurred similar to otherwise healthy eyes. However, in this case, topical anti-inflammatory medications had a good response and were well-tolerated.

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A rare case of bilateral ocular manifestations of Sturge-Weber syndrome

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20214728 ◽

2021 ◽

Vol 9 (12) ◽

pp. 3721

Author(s):

Pranami Basyach

Keyword(s):

Normal Limit ◽

Retinal Nerve Fibre Layer ◽

Ocular Manifestations ◽

Corrected Visual Acuity ◽

Weber Syndrome ◽

Operative Complications ◽

Sturge Weber Syndrome ◽

Nerve Fibre Layer ◽

Systemic Examination

Sturge–Weber syndrome (SWS) is a group of phakomatoses characterized by hamartomas involving brain, skin and eyes. A 36 years old female presented with pain and diminution of vision in both eyes since last 1 year. On examination she has bluish sclera in B/L eyes with characteristic facial port-wine stain. Best corrected visual acuity (BCVA) in R/E- 6/18, N6 and in L/E- 6/6, N6. Intra-occular pressure (IOP) in R/E – 27 mm Hg and in L/E –18 mmHg. On gonioscopy – open angle B/E. On direct ophthalmoscopy and slit-lamp examination with 90 D lens, cup-disc ratio in R/E – 0.9 and in L/E – 0.7 with thinning of neuro-retinal rim in B/E. In optical coherence tomography (OCT), retinal nerve fibre layer (RNFL) and optic nerve head (ONH) it was confirmed. Other systemic examination – within normal limit. Initially, she had been on conservative treatment. As intraocular pressure remained high after several weeks of treatment, trabeculectomy in R/E done under local anaesthesia. No post-operative complications were seen. After 7 days of follow-up IOP – within normal limit, vision in R/E unchanged and had been frequently followed-up.

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