UNUSUAL SYSTEMIC ASSOCIATION OF RETINITIS PIGMENTOSA SENIOR LOKEN SYNDROME- A RARE CASE REPORT

Dr B Latha, Dr S Anuradha, Dr M Sushma, Dr C Sony Shireesha

Abstract


A 22 year male patient presented to our institute with complaints of facial puffiness followed by pedal edema,polyuria .Patient was referred to ophthalmology OP for loss of vision since childhood similar complaints are present in his sister.on examination visual acuity is absence of perception of light and pupils not reacting to light in both eyes. Horizontal nystagmuspresent.fundus picture showed advanced retinitis pigmentosa. USG and CT revealed echogenicity and multiple cortical cysts.

CONCLUSION: Thus association of nephronophthisis and retinitis pigmentosa with positive family history correlates to rare presentation known as senior loken syndrome.


Keywords


polyuria, nystagmus, retinitis pigmentosa, family history, cortical cysts

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References


Senior B, FriedmannAL, Braudo JL. Juvenile familial nephropathy with tapetoretinaldegeneration.Am J Ophthalmol.1961;52:625-33

Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary renal dyplasia and blindness. ActaPaediatr. 1961;50:177-84.

Satran D, Pierpont ME, Dobyns WB. Cere¬bello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: More than just variants of Joubert syn¬drome. Am J Med Genet 1999;86(5): 459-69.

Otto EA, Tory K, AttansioM,et al. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)J Med Genet.2009;46:663-70.


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