Failure of Systemic Propranolol Therapy for Choroidal Hemangioma of Sturge-Weber Syndrome

Krema, Hatem; Yousef, Yacoub A.; Durairaj, Priya; Santiago, Ronaldo

doi:10.1001/jamaophthalmol.2013.2879

Cited by 18 publications

(8 citation statements)

References 6 publications

(5 reference statements)

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“…Cases associated with choroidal hemangioma have intraoperative risk of choroidal effusion up to 24% [ 13 ]. Oral propanolol has been used to reduce the incidence of choroidal effusion, but results are conflicting [ 14 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome

Patil

Sinha

Nayak

et al. 2015

Case Reports in Ophthalmological Medicine

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Aim. To report a case of bilateral Sturge-Weber and Phakomatosis pigmentovascularis with secondary glaucoma in a child. Method. Case report. Results. A 4-year-old male child was referred to us for control of intraocular pressure (IOP). Sleeping IOP was 36 mm Hg in right eye and 28 mm Hg in the left eye. The sclera of both the eyes showed bluish black pigmentation—melanosis bulbi. Fundus examination of both eyes showed diffuse choroidal hemangiomas with glaucomatous cupping. Nevus flammeus was present on both sides of face along all the 3 divisions of trigeminal nerve with overlying hypertrophy of skin and on left forearm. Nevus fuscocaeruleus was present on upper trunk. All skin lesions were present since birth and were stationary in nature. CT scan of head revealed left-sided cerebral atrophy. Intraocular pressure was controlled after treatment with topical antiglaucoma medications. Pulsed Dye Laser has been advised by dermatologist for skin lesions. Patient has been advised for regular follow-up. Conclusion. The two overlapping dermatological disorders and their association with glaucoma are a rare entity. Management should be targeted both for dermatological and eye conditions.

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Section: Discussionmentioning

confidence: 99%

Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome

Patil

Sinha

Nayak

et al. 2015

Case Reports in Ophthalmological Medicine

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“…The front-line medical therapy for infantile hemangioma, propranolol, 5 has been tested on 2 choroidal hemangioma cases without noticeable improvement over 6 months. 6 This finding suggests that a different molecular mechanism drives choroidal hemangioma.…”

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confidence: 99%

Association of SomaticGNAQMutation With Capillary Malformations in a Case of Choroidal Hemangioma

et al. 2019

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IMPORTANCE Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations. OBJECTIVE To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c.548G>A), was present in the choroidal hemangioma of a patient with Sturge-Weber syndrome. DESIGN, SETTING, AND PARTICIPANT Using laser-capture microdissection, choroidal blood vessels were isolated from paraffin-embedded tissue sections, and genomic DNA was extracted for mutational analysis. Choroidal sections were analyzed in parallel. A patient with choroidal hemangioma and Sturge-Weber syndrome who had undergone enucleation was analyzed in this study at Boston Children’s Hospital. Negative controls were choroidal tissue from an eye with retinoblastoma and unaffected lung tissue; brain tissue from a different patient with Sturge-Weber syndrome served as a positive control. Infantile hemangioma was analyzed as well. Data were analyzed in 2018. MAIN OUTCOMES AND MEASURES The mutant allelic frequency of GNAQ R183 and GNAQ Q209L/H/P was determined by droplet digital polymerase chain reaction on isolated genomic DNA. The infantile hemangioma marker glucose transporter-1 was visualized by immunofluorescent staining of tissue sections. RESULTS The GNAQ R183Q mutation was present in the patient’s choroidal vessels (21.1%) at a frequency similar to that found in brain tissue from a different patient with Sturge-Weber syndrome (25.1%). In contrast, choroidal vessels from a case of retinoblastoma were negative for the mutation (0.5%), as was lung tissue (0.2%). The patient’s choroidal tissue was negative for the 3 GNAQ mutations associated with congenital hemangioma and for the infantile hemangioma marker glucose transporter-1. CONCLUSIONS AND RELEVANCE The results suggest that a more accurate description for choroidal hemangioma in patients with Sturge-Weber syndrome is choroidal capillary malformation. This finding may explain why propranolol, used to treat infantile hemangiomas, has been largely ineffective in patients with choroidal hemangioma. Further studies are needed to corroborate this finding.

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“…Recently, Léauté-Labrèze et al [17] observed that systemic propranolol could inhibit the growth of infantile orbital hemangioma lesions. Krema et al [18] reported the failure of oral propranolol for exudative retinal detachment in DCH associated with SWS.…”

Section: Discussionmentioning

confidence: 99%

“…Twelve patients had no history of glaucoma and the mean IOP was 15 mmHg (10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Two patients without history of glaucoma required anti-glaucomatous medication after irradiation.…”

Section: Iop Evolutionmentioning

confidence: 99%

Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge–Weber syndrome

Randon

Lévy-Gabriel

Abbas

et al. 2018

Eye

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Failure of Systemic Propranolol Therapy for Choroidal Hemangioma of Sturge-Weber Syndrome

Cited by 18 publications

References 6 publications

Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome

Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome

Association of SomaticGNAQMutation With Capillary Malformations in a Case of Choroidal Hemangioma

Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge–Weber syndrome

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