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

Abstract

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-yearold 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

Bilateral Isolated Spherophakia in Two Young East European Siblings: A Case Report

“…Spherophakia is a rare eye condition frequently associated with systemic disorders, such as Weill-Marchesani's, Marfan's, Klinefelter's, or Alport's syndromes [ 1 , 2 , 3 , 4 ]. New associations are still emerging in recent reports, such as with Sturge Weber's syndrome [ 6 ]. Although the pathophysiology of spherophakia is not completely clarified yet, it is known that zonular fibers' weakness is responsible for crystalline lens assuming spherical shape.…”

“…Spherophakia can be associated with systemic syndromes. Some of the most common associations are Marfan's and Weill-Marchesani's syndromes, and mandibulofacial dysostosis, Alport's, Klinefelter's, Sturge Weber, and Axenfield-Rieger syndromes [ 1 , 2 , 3 , 4 , 5 , 6 , 7 ]. Spherophakia could also be associated with diseases secondary to abnormal development of the eye and specifically altered maturation of the anterior segment, such as irido-corneal endothelial syndrome, megalocornea, and aniridia [ 7 ].…”

Síndrome de Sturge-Weber: relato de caso clínico

“…A angiomatose facial é localizada na região frontal e pálpebras, no primeiro e segundo ramo do nervo trigémeo. A lesão se caracteriza como plana e rosada, onde à medida que a criança cresce, a cor se modifica para o vermelho ao vinho, em alguns casos as lesões vasculares podem causar nodularidade superficial e bolhas (Maraña Pérez et al, 2017;Avalos-Lara et al, 2020). Segundo Rodofile et.…”

“…Na SSW, o tratamento em geral inclui anticonvulsivos para controle de epilepsia, tratamento sintomático e profilático para cefaléia e glaucoma para reduzir a pressão intraocular (Avalos-Lara et al, 2020). O paciente faz uso contínuo de anticonvulsivante e ácido acetilsalicílico e tem glaucoma controlado pelo oftalmologista.…”