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Ocular abnormalities in a child with Alport syndrome

Poster Details

First Author: R.Rothwell PORTUGAL

Co Author(s):    S. Barge   R. Varandas           

Abstract Details



Purpose:

To report a case of Alport syndrome in a 7-year-old child

Setting:

Centro Hospitalar de Vila Nova de Gaia/Espinho

Methods:

A child with a history of nephritis, hematuria and hearing impairment was referred to ophthalmology. The patient underwent a complete ophthalmological examination including evaluation of visual acuity, anterior segment biomicroscopy and fundoscopy. Spectral Domain Optical Cohrence Tomography of the anterior segment, optic nerve and macula was performed. Both parents were subsequently examined.

Results:

Visual acuity was 20/40 OD and 20/30 OE with -1.00Dx180ẃ ODE. An abnormal ocular reflex was observed on retinoscopy. At biomicroscopy, posterior polymorphous dystrophy was evident on the right eye, and anterior lenticonus was present bilaterally. The posterior segment was normal. The patient’s mother exhibited a subtle bilateral anterior lenticonus. Genetic testing for an X-linked mutation is currently underway.

Conclusions:

Ocular changes are reported to be uncommon and subtle in young patients with Alport Syndrome, with signs that increase in frequency and severity with age. We present a case of a child with multiple ocular findings at 7 years of age.

Financial Disclosure:

NONE

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