Keywords :
Case report, Developmental glaucoma, KTW syndrome, Naevus of Ota, PPV, Port-wine stain
Citation Information :
Singh K, Mutreja A, Bhattacharyya M, Dangda S, Jaisingh K. Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins. J Curr Glaucoma Pract 2018; 12 (2):94-98.
Aim: To report a case of bilateral phacomatosis pigmentovascularis (PPV), in a young male, presenting with developmental glaucoma and high myopia along with systemic features of klippel trenanauy weber (KTW) syndrome.
Background: The co-existence of oculodermal melanocytosis (ODM)and port-wine stain was termed PPV by Ota. Port-wine stain presents as part of Sturge-Weber syndrome (SWS). KTW presents with varicose veins and tissue hypertrophy alongwith port-wine stain.
Case Description: A 22-year-old male presented with decreased vision owing to high myopia and advanced glaucoma. Incidental findings noted were pigmentary naevi along with facial port-wine stain, which collectively comprises PPV. Also noted were bilateral varicose veins which are usually seen in association with KTW. In view of advanced visual field damage and inability to control intraocular pressures (IOP) on topical medications, he underwent Glaucoma filtration surgery in both eyes. Intra-operatively care was taken to avoid sudden decompression by controlled anterior chamber paracentesis, and scleral flap closure with releasable sutures was done to prevent hypotony related complications in the immediate postoperative period. Such precautions lead to an uneventful postoperative recovery, and even at 3 years’ follow-up, the patient is maintaining IOP in early teens along with a stable visual acuity and visual fields.
Conclusion: This case highlights the overlapping features of congenital conditions like oculodermal melanocystosis (ODM), SWS, KTW; presenting in a young male. Systemic features reported less frequently with PPV, included palatal pigmentation and palatal vascular malformations.
Clinical Significance: This case re-emphasizes a common origin of these entities, PPV and KTW, from the neural crest cells. Early recognition of the systemic features and timely surgical intervention under appropriate precautions, can be vision salvaging in such cases of developmental glaucoma.
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