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 Table of Contents  
Year : 2023  |  Volume : 3  |  Issue : 2  |  Page : 599-600

A case of two overlapping rare syndromes with ocular manifestation

1 Air Force Central Medical Establishment, New Delhi, India
2 Army Hospital RR, New Delhi, India

Date of Submission27-Dec-2022
Date of Acceptance10-Feb-2023
Date of Web Publication27-Apr-2023

Correspondence Address:
Atul Kumar Singh
Department of Ophthalmology, Air Force Central Medical Establishment, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJO.IJO_3371_22

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Keywords: Glaucoma, Klippel–Trenaunay syndrome, muscular hypertrophy, Sturge–Weber syndrome

How to cite this article:
Singh AK, Malik R, Bhardwaj A. A case of two overlapping rare syndromes with ocular manifestation. Indian J Ophthalmol Case Rep 2023;3:599-600

How to cite this URL:
Singh AK, Malik R, Bhardwaj A. A case of two overlapping rare syndromes with ocular manifestation. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 2];3:599-600. Available from: https://www.ijoreports.in/text.asp?2023/3/2/599/375044

Twelve-year-old female presented to this center with difficulty in seeing from her right eye for one year and watering from both eyes since the same duration. She was diagnosed as a case of congenital glaucoma (both eyes) since the last 5 years and is already under topical antiglaucoma medications (both eyes). At the time of presentation, the best-corrected visual acuity (BCVA) in the right eye was 6/12 and the left eye was 6/9. The anterior chamber (AC) of both eyes shows deep AC with megalocornea. Fundus examination revealed near total glaucomatous optic atrophy in the right eye and cup-disc ratio (CDR) 0.6:1 with a superior notch in the left eye [Figure 1]. Applanation tonometry intraocular pressure (IOP) was 28 and 18 mmHg (on antiglaucoma medication) in the right and left eye, respectively. A four-mirror gonioscopy revealed open angles with few iris processes and increased trabecular pigmentation (grade 2) in both eyes. Central corneal thickness was 570 m and 590 m, respectively. The right eye visual field shows generalized overall depression of the visual field and the left eye visual field (30-2) showed few rim defects with inferior incomplete arcuate scotoma. She had extensive port-wine stains on both sides of her face [Figure 2]. She also had left-side relative hypertrophy [Figure 3]. Dilated superficial vessels are also noted in the lower limbs. Based on the above features, she was diagnosed as a case of overlapping Sturge–Weber syndrome in combination with Klippel–Trenaunay syndrome (KTS). In view of high IOP and advanced visual field changes in her right eye, she underwent a trabeculectomy with mitomycin C application in the right eye. Her left eye was kept under observation with combined antiglaucoma. She was also evaluated by a neuro physician for the possibility of starting any anticonvulsant therapy. Genetic counseling, pediatric evaluation, and dermatologist opinion were also taken. The only positive finding was a left ovarian cyst for which she was referred to a gynecologist opinion.
Figure 1: Right eye total glaucomatous optic atrophy

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Figure 2: Port-wine stain on both sides of the face

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Figure 3: Left-side relative hypertrophy

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  Discussion Top

This is a rare case of overlapping KTS and Sturge–Weber syndrome with secondary glaucoma. The suggested pathogenetic mechanisms are venous dysplasia of the emissary veins in the intracranial circulation leading to vascular malformations, alteration of autonomic perivascular nerves due to neural crest alterations, and GNAQ gene mutation in the Sturge–Weber syndrome.[1] In the pathogenesis of KTS, PIK3CA mutations have been additionally implicated.[2] In these syndromes, neuro-ectodermal vasculature involvement is primary and other features are secondary to primary involvement.[3] Glaucoma, the ocular finding in these syndromes, is attributable to increased episcleral venous pressure or anterior chamber angle malformation. Glaucoma is more refractory to the treatment, both medical and surgical, due to trabecular meshwork ultrastructural or compositional alteration.[4] We find this case a very rare case especially in females as this overlapping syndrome is more prevalent in males.[5] Further uniqueness of this case was ocular manifestation was more on the right side with KTS features more on the left side.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Comi A. Pathophysiology of Sturge-Weber syndrome. J Child Neurol 2003;18:509-16.  Back to cited text no. 1
Vahidnezhad H, Youssefian L, Uitto J. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Exp Dermatol 2016;25:17-9.  Back to cited text no. 2
Purkait R, Samanta T, Sinha Mahapatra T, Chatterjee M. Overlap of Sturge-Weber syndrome and Klippel-Trenaunay syndrome. Indian J Dermatol 2011;56:755-7.  Back to cited text no. 3
[PUBMED]  [Full text]  
Phelps CD. The pathogenesis of glaucoma in Sturge-Weber syndrome. Ophthalmology 1978;85:276-86.  Back to cited text no. 4
Ardern-Holmes S. Sturge-Weber syndrome: From the past to the present. Eur J Paediatr Neurol. 2013;18:257-66.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3]


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