BACKGROUND: Laurence-Moon-Bardet-Biedl Syndrome (LMBB) is an autosomal recessive condition with a high rate of consanguinity. Its manifestations include pigmentary retinopathy similar to retinitis pigmentosa (RP), polydactyly, syndactyly, mental retardation, and obesity. Ocular disorders resulting in peripheral vision loss, seen in LMBB, can be a debilitating condition. Thus, when addressing vision loss within a pediatric population, academic and social issues are important factors to consider when devising management strategies.
CASE REPORT(S). BZ, a 14-year old female diagnosed with RP, was referred by her school for consultation. Our goal was to aid the school in proper placement, as there were cultural biases that made traditional psycho-educational testing invalid. Best-corrected visual acuity was measured at 20/80 in the right and left eye. Cylcoplegic retinoscopy revealed -0.75-6.25x180 in the right eye and -2.75-5.50x180 in the left eye. Dilated fundus evaluation revealed RP-like findings in both eyes. Visual field defects were noted in the right and left eye. With the previously diagnosed RP, a skin tag on the left hand, and poor comprehension of testing instructions, LMBB was suspected. Recommendations were to pursue further testing and genetic counseling. BZ's parents later disclosed that they are first cousins and previous genetic testing confirmed the diagnosis of LMBB. Consequently, adjustments were made to BZ's individual education plan that better suited her capabilities.
CONCLUSIONS. Since the majority of our learning occurs through vision, when vision is compromised, developmental and educational delays can occur. This case report illustrates the impact pediatric optometry can have in appropriate ocular diagnosis and other issues that affect patients' quality of life.