Ocular Aspects of Facial Port-Wine Stain
M.S. Farahvash MD
Department of Ophthalmology, Tehran University of Medical Sciences, Tehran, Iran
Background/Objective-Facial port-wine stain
may be associated with ocular anomalies and cause
significant visual morbidity.
Purpose-The aim of the study was
to determine the frequency of ocular lesions of port-wine
stain of the face in our patients.
Methods-Of patients referred to
the Plastic Surgery Services of the Razi Hospital of
Tehran University of Medical Sciences, from 1988 to 1997,
clinical and radiologic studies of 271 patients were
evaluated.
Results-The author presents
ophthalmic findings in 271 cases of facial port-wine
stain, including glaucoma and vascular abnormalities of
the conjunctiva, episclera, choroid and retina. Of the
271 cases, 27(9.9%) had leptomeningeal angiomatosis (LA),
13(4.8%) had glaucoma (which was bilateral in 5
patients), nine (3.3%) had LA and glaucoma and 10(3.6%)
had choroidal hemangioma, which was bilateral in 3
patients and 41(15.1%) had conjunctival or episcleral
hemangioma. Other ocular manifestations (iris
heterochromia, retinal detachment and retinal vascular
tortuosity) were also observed. The ages of the patients
when seen varied from 6 to 55 years (mean=24.4).
Seventy-nine patients (29.1%) were male and 192(70.8%)
female.
Conclusion-The study shows that only
patients with lesions located in the ophthalmic cutaneous
area should be evaluated prospectively for neuro-ocular
abnormalities.
Introduction
The port-wine stain (PWS) is a dermal capillary vascular malformation presenting at birth.1,2 The Sturge-Weber syndrome (SWS) is a facial port-wine stain in association with ipsilateral pial vascular anomalies (with one or more bouts of epilepsy early in life, hemiparesis or hemiplegia, gyriform intracranial calcification and cerebral atrophy) together with ocular lesions.3 Some patients have facial port-wine stains and ocular lesions without meningeal vascular anomalies.4,5
The clinical manifestations of SWS have a common embryological basis. The primary defect is a developmental insult, affecting tissues which originate in the pro- and mesencephalic neural crest.6 These affected precursors then give rise to vascular and other tissue malformations in the meninges, the eye and the dermis.7 SWS can be classified as a disorder of neural crest migration and differentiation. Although the exact nature of the insult is unknown, it has been postulated that it might be a somatic mutation in these precursors, leading to overproduction of an angiogenic factor. Others have suggested that SWS might be due to a lethal gene surviving by mosaicism.
Subjects and Methods
We reviewed 271 cases of facial port-wine stain. All patients were seen between 1988 and 1997, and were referred by the Plastic Surgery Service of the Razi Hospital of Tehran University of Medical Sciences, before undergoing cosmetic laser surgery. The topographic analysis of all patients was based on facial photographs. Computed tomography of the cranium was performed in all patients.
Medical records were reviewed, noting age, sex, family history as well as systemic and ocular characteristics. Ophthalmological examination comprised assessment of visual acuity, adnexal tissues, alignment and motility, slit-lamp biomicroscopy (including gonioscopy), intraocular tensions, direct and indirect ophthalmoscopy, echography and angiography, if necessary.
Results
Analysis of the 271 cases with facial port-wine stain showed that 27 patients (9.9%) had PWS and pial vascular anomalies, of whom 9 (3.3%) had associated glaucoma and 4 (1.4%) had port-wine stain with glaucoma alone and without pial lesions. Two hundred forty patients (88.5%) had only port-
wine birthmarks on the face, with neither glaucoma nor leptomeningeal vascular malformation. Twenty-three of the 271 patients had additional PWS over the body. The ages of the patients varied from 6 to 55 (mean=24.4) years; 79 (29.1%) of the patients were males and 192 (70.8%) females.
The ocular manifestations are shown in Tables 1 and 2. Glaucoma was unilateral in 8 and bilateral in 5 cases, giving a total of 18 eyes with glaucoma. Four glaucomatous patients had buphthalmos with opaque cornea. Forty-one (15.1%) patients had conjunctival/episcleral hemangiomas. Ten (3.6%) had choroidal hemangiomata which were bilateral in 3 patients, giving a total of 13 eyes with this disorder. All lesions were diffuse. Retinal vascular tortuosity affecting predominantly the veins was seen in 3 (1.1%) cases (all having choroidal hemangiomas). Two patients (0.7%) had serous retinal detachment and diffuse choroidal hemangiomas. Three patients (1.1%) revealed iris heterochromia. Nine eyes had less than 1/10 vision, which was attributed to severe glaucomatous damage. Twenty-one eyes had a visual acuity between 1/10 and 5/10.
Discussion
The topographic evaluation demonstrated that in 125 out of 271 cases, the anatomic location of the port-wine stain was restricted to one of three cutaneous trigeminal sensory areas. In the remaining 146 cases, port-wine stain was more extensive and affected half or more of the face. Risk evaluation for SWS revealed that the ophthalmic location was determinant, ie; it was the only area associated with neuro-ocular pathology(Tables 1 and 2). In the no-risk group which comprised 164 patients, the PWS was located in the V2 and/or the V3 areas of trigeminal sensory branches, without involvement of the V1 ophthalmic area. None of these patients had ocular or pial vascular malformations. In the risk group of 107 patients, PWS spread over the V1 area alone, or with extension to V2 and V3 areas. The risk group could be subdivided into a high risk group of 55 patients with all of the V1 area covered by PWS; alone or in association with V2 and V3 stains. In these cases, we found 24 patients with PWS and pial lesions and 9 with PWS and glaucoma along with pial vascular changes. There was also a low risk group of 52 patients with only partial staining of the V1 area alone, or with addition of V2 and V3 involvement. We found 3 cases of PWS and pial lesions in the low risk group.
This study confirms the findings of previous authors on SWS in that supraocular port-wine staining carries the risk of meningeal vascular malformation.8,9 It is the involvement of the ophthalmic trigeminal area alone that raises suspicion of pial vascular anomalies. Stevenson et al.1 in a study of 50 patients with facial PWS, showed that if both the ophthalmic and maxillary divisions were involved, there would be a 45% chance of associated glaucoma. On the other hand, if involvement of either vision alone, there were no associated ocular findings would be anticipated. We found that in 47 patients with PWS located on both V1 and V2 areas, 9 (19.1%) had glaucoma of whom 6 (66%) had pial vascular malformations. None of the 78 patients with the stain restricted to the V2 division had glaucoma.
It is, however, concluded that repeated ophthalmic examination and CT scan for ocular-CNS involvement, are only indicated in the high risk group.
Neurologists, dermatologists and ophthalmologists use different criteria for the diagnosis of SWS which leads to confusion in the definition and/or classification of the syndrome.
Glaucoma occurred in 12.4% of our patients with full or partial V1 involvement and 33.3% of patients with pial lesions. Three out of 13 patients (23%) with glaucoma had PWS involving their upper and lower eyelids. No patient with uninvolved eyelids had glaucoma or was felt to be at risk for developing late-onset glaucoma.10 PWS in many patients showed minor trans-median involvement; this is not regarded as bilateral and is well explained by the phenomenon of trans-median innervation.
The choroidal hemangioma11,12 because of its diffuse nature and minimal elevation may be easily overlooked, especially if bilateral. One must suspect its presence and look for the loss of the normal pattern of choroidal vasculature and a diffuse red fundal appearance. Retinal vascular tortuosity does provide a clue, but is not constantly present. B-scan ultrasonography is another useful adjunct for diagnosis, especially in patients with opaque media.
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