FP213

A rare case of Bardet Biedl syndrome- with ocular involvement

Purpose-To report a case of Bardet-Biedel syndrome with ocular features
Materials- A 7 year old female came with decreased vision and night blindness. She was born of consanguinous marriage; had mental retardation, underwent vaginoplasty for vaginal agenesis. Systemic examination showed truncal obesity and polydactyly of 4 limbs; small ventricular septal defect with left to right shunt and bilateral hydronephrosis. On ocular examination best corrected vision of 6/60 and 6/36 was seen in right and left eyes, with normal anterior segments. Retina showed waxy disc pallor, arteriolar attenuation in both eyes suggestive of atypical retinitis pigmentosa. OCT showed photoreceptor disruption with foveal thinning.
Result-She was diagnosed with Bardet-Biedel syndrome. After cycloplegic refraction and retinoscopy she was given appropriate glasses and low vision aids, with close follow ups.
Conclusion-Management of syndromic cases requires a high index of suspicion and multidisciplinary approach.