Abstract
Case Report: A 14 year old male child presented to the ophthalmology clinic with complaint of poor vision of both eyes since early childhood. The parents also gave a history of mental retardation, extra digits in both hands and feet, poorly developed genitals and obesity. The child was previously diagnosed to be suffering from insulin dependent (IDDM). Ocular examination revealed poor vision in both eyes, pigmentary retinopathy with consecutive optic atrophy and macular dystrophic changes. This was established as rod cone dystrophy on mf-ERG. Systemic examination revealed that the child had obesity, post-axial polydactyly, short stature, micropenis, small testes bilaterally and psychometric testing showed intellectual impairment.
Conclusion: This report of rod-cone dystrophy associated with IDDM significantly expands the spectrum of BBS phenotype.
Keyword: Bardet Biedl syndrome; Insulin dependent diabetes mellitus; retinitis pigmentosa; rod cone dystrophy.
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DOI: https://dx.doi.org/10.18535/jmscr/v5i2.46
