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Waardenburg syndrome type 1 with unilateral glaucoma
*For correspondence: skavitha.shree@gmail.com
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Received: ,
This article was originally published by Wolters Kluwer - Medknow and was migrated to Scientific Scholar after the change of Publisher.
A 50 yr old female† with congenital deafness and premature greying of hair presented to the outpatient section of the Glaucoma department of Aravind Eye Hospital, Puducherry, India in August 2019, with defective vision in the left eye (LE). On examination, broad nasal bridge, medial eyebrow flare and dystopia canthorum (lateral displacement of canthi) were noted. Anterior segment showed hypochromic iris, irregular pupil and cataract in the LE (Fig. 1). Intraocular pressure (IOP) was high (30 mmHg). Gonioscopy showed normal pigmentation in the right eye (RE) (Fig. 2A) and increased pigmentation in the LE (Fig. 2B). Fundus was normal in the RE (Fig. 2C) and LE showed albinotic glow with advanced glaucoma (Fig. 2D). A diagnosis of type 1 Waardenburg syndrome (WS) with unilateral pigment dispersion glaucoma in the LE was made. She was started on topical antiglaucoma medications, and after two months, she underwent combined cataract and glaucoma surgery in the LE. On follow up after a month, her vision had improved and IOP was normal. WS is a group of rare genetic conditions and is characterized by congenital hearing loss and pigmentation deficiencies most consistently in the eyes. These patients need a multidisciplinary approach, including otorhinolaryngologist, ophthalmologist and sometimes paediatric surgeons in younger patients.
- Hypertrichosis of medial eyebrows (blue arrow), flat nasal bridge (green arrow), dystopia canthorum (red arrow), hypochromic iris (black arrow) and irregular pupil in the left eye.
- (A) Gonioscopy image showing normal pigmentation in the angle of the right eye (blue arrow) and (B) showing heavily pigmented angles in the left eye (red arrow), (C) fundus image showing normal fundus in the right eye, (D) showing albinotic glow (orange and hypopigmented - white arrow) with advanced glaucomatous optic nerve head damage in the left eye. Black arrows in C and D indicate the extent of cupping in the optic nerve head.
Conflicts of Interest: None.
