Anterior lenticular opacities in Costello Syndrome
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Costello syndrome is a rare congenital malformation characterized by growth retardation, characteristic facies, skin laxity, and developmental delay. Most of the children are diagnosed clinically when they have the aforementioned group of signs or symptoms. The reported prevalence all over the world is 1 in 300,000. The diagnosis is confirmed by identification of an HRAS mutation; which is present in more than 80% patients of this syndrome. Ocular findings in these patients include nystagmus due to delayed visual maturation, strabismus and myopia.

A 14 -year-old female presented with complaints of severe itching all over body and eczematous lesions predominantly over flexures since early childhood. Past history revealed that the patient had delayed milestones. On general physical examination, patient was short statured and had a distinctive coarse facial features with unusually curly hair, sparse hair on the front (anterior) of the head, low-set ears with large, hemangioma over right eyebrow, thick lobes; unusually thick lips; a large, depressed nasal bridge and abnormally wide nostrils (nares).

Eczematous plaques were present in the cubital and popliteal fossa and lichenification over the upper and lower extremities. Patient was given prednisolone 20 mg/day and topical steroids and tacrolimus 0.1% ointment for her eczematous lesions, which improved partially after 2 weeks of treatment. Steroids were tapered gradually and she was started on azathioprine 50mg/day along with topical steroids, tacrolimus and oral antihistamines for long-term remission of disease. Her cardiac, neurological and endocrine evaluation was normal.

On ocular examination, her unaided visual acuity was 20/80 in right eye and 20/70 in left eye. The patient had a horizontal jerk nystagmus with right eye exotropia. Corrected distance visual acuity was 20/40 in the right eye with 1.5 D sphere and 20/30 in the left eye with 1.5 DS sphere. On dilated slit lamp examination, the cornea was clear and the anterior chamber was quiet in both the eyes. The intraocular pressures were normal. There was presence of a linear central 2mm capsular opacity along with a speck of nuclear opacity in the right eye. The left eye examination also revealed small wool like central capsular opacity with a speck of anterior lenticular opacity. The fundus examination was unremarkable. Swept-source optical coherence tomography (SS-OCT) showed a plaque like deposit on the capsular surface of both the eyes. Also we could see anterior nuclear opacities, which were present in the adult nucleus. Corneal topography parameters as seen on Pentacam HR (Oculus Surgical, Inc., Germany) were normal. Since the patient had no visual complaints, the patient was advised to follow up for ophthalmic evaluation every 3 months.

All patients with Costello Syndrome require a detailed anterior segment examination and a close follow up, as even minute lenticular opacities cause visual impairment leading to amblyopia and may require an early surgical intervention.

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