A rare case of senior loken syndrome

Abstract

Senior Loken syndrome is a rare autosomal recessive genetic disorder. This syndrome mainly targets kidney and eye. Nephronophthisis, a chronic kidney disorder, is the common renal manifestation of this syndrome. End-stage renal disease eventually occurs during adulthood if not intervened. Thus, Senior Loken syndrome is a rare combination of chronic kidney disease, anemia, bronchiectasis, and retinitis pigmentosa. Retinitis pigmentosa that starts in early childhood is the typical ocular manifestation of this syndrome although Leber congenital amaurosis occurs in severe cases. Retinitis pigmentosa is a type of retinal dystrophy affecting mainly rods and cones in a later stage. Although X-linked inheritance causes severe form of retinitis pigmentosa, autosomal recessive is the most common mode of inheritance where retinitis pigmentosa forms part of many systemic syndromes. Night blindness is the presenting symptom which progresses to tubular vision in later stages, with the characteristic fundus features of bony spicule, arteriolar attenuation, and waxy pallor of the disc. Counseling of patient and caretakers about the course of disease and the need for low-vision aids in later stages is vital in retinitis pigmentosa patients. Patients should also be educated about the need for regular nephrology and ophthalmology follow-up to prevent further morbidity.

Keywords

• bronchiectasis
• night blindness
• retinitis pigmentosa
• senior loken syndrome