Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome
ABSTRACT Treatment of the capillary vascular malformation (port-wine stain) in Sturge-Weber syndrome with the use of a laser is helpful cosmetically. However, concerns have been raised that laser obliteration of port-wine stains may result in ocular hypertension. The aim of this study was to review clinical features and management of ocular complications of SWS and assess the effects of dermatological laser treatment on the incidence of glaucoma or ocular hypertension.
This retrospective cohort study was conducted in an institutional setting. All patients had involvement of the face. Patients who underwent skin laser to the port-wine vascular malformation were analyzed further. Ocular involvement, glaucoma, and skin laser treatment and the relationship to ocular hypertension/glaucoma were observed.
Forty-one Sturge-Weber syndrome patients with port-wine vascular malformation were analyzed. Glaucoma was observed in 24 patients (58.5%) at mean age of 2.9 years (range, 0.0-16.5). Of these, 18 (75.0%) were treated with medical therapy, and 10 (41.7%) required trabeculectomy, with 2 of these requiring Seton implant. Of the 41 patients, 28 (68.3%) underwent laser to face/forehead. Mean age of laser commencement was 5 years (range, 0.4-16.5). Thirteen did not undergo laser treatment. Fourteen of the 28 and 10 of the 13 developed ocular hypertension/glaucoma.
This retrospective review did not find evidence to suggest that laser treatment of port-wine vascular malformations causes glaucoma or that it can worsen a preexisting ocular hypertension or glaucoma. Statistical analysis was inconclusive.
[Show abstract] [Hide abstract]
ABSTRACT: Introduction: Sturge-Weber syndrome (SWS) presents in infancy with a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid ‘angioma’ of the eye. It is a rare neurocutaneous disorder which occurs sporadically and is not inherited. Areas covered: Patients with SWS brain involvement have seizures, strokes and stroke-like episodes, and a range of the neurologic impairments. The mainstays of current treatment have included laser therapy for the birthmark, control of glaucoma through eye drops or surgery, and the use of anticonvulsants and low-dose aspirin. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive co-morbidities are important to manage. SWS is not inherited, and the somatic mosaic mutation in the GNAQ gene, encoding the protein Gαq, has recently been identified. Impaired blood flow, coupled with impaired vascular innervation and function, contribute to neurologic deterioration over time in many patients. Expert opinion: Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive over-activation of the Ras-Raf-MEK-ERK pathway and inhibitors of this pathway may in the future prove useful in the treatment of SWS.09/2014; 2(10). DOI:10.1517/21678707.2014.941805
Sultan Qaboos University medical journal 05/2014; 14(2):e155-e156.
Article: Pediatric glaucoma suspects[Show abstract] [Hide abstract]
ABSTRACT: PurposeTo report demographic and ocular features of pediatric glaucoma suspects in an ethnically diverse population of North Central Texas.DesignRetrospective cross-sectional chart review.ParticipantsSubjects included 75 (136 eyes) pediatric glaucoma suspects. Patients with one or more of the following risk factors were included: cup-to disc (C/D) ratio of ≥0.6; intraocular pressure (IOP) ≥21 mmHg; family history of glaucoma; congenital glaucoma in the opposite eye; history of blunt trauma to either eye; and presence of either Sturge-Weber or Axenfeld–Rieger syndrome, or oculodermal melanocytosis.MethodsData were extracted from electronic patient medical records. Patient records with incomplete data were excluded. The main outcome measures were race, sex, age, IOP, C/D, family history of glaucoma; and glaucoma treatment.ResultsSubjects included 28 (37.3%) Hispanics, 20 (26.6%) African Americans, 20 (26.6%) Caucasians, and seven (9.3%) Asians. Forty (53.3%) of the patients were male. Suspicious optic disc was seen in 57 (76%); elevated IOP in 25 (33.3%); presence of family history in 13 (17.3%), and Sturge–Weber syndrome in nine (12%) patients. The average C/D ratio was 0.58±0.2. The C/D ratios of African American (0.65±0.2), Hispanic (0.63±0.2), and Asian (0.62±0.15) patients were significantly greater than those of Caucasians (0.43±0.18; P=0.0004, 0.0003, and 0.0139, respectively). Caucasian patients were the youngest (7.9±4.8 years). Eleven cases (14.7%) required medication.ConclusionThirty-three point seven percent of patients seen in the glaucoma clinic were glaucoma suspects. The most common risk factors for suspected glaucoma were suspicious optic discs, elevated IOP, and family history of glaucoma. Most patients required only close observation. Long-term follow-up of these patients is warranted to determine the mechanisms of conversion to glaucoma.Clinical ophthalmology (Auckland, N.Z.) 06/2014; 8:1139-45. DOI:10.2147/OPTH.S61682