Dr. Nirupama Mandiga, M17224, Dr.Prathima Linga
A 39 year old male patient was referred to our OPD for ophthalmic evaluation. His chief complaints were blackish discolouration of both eyes since 6 months. On general examination there was bluish black discoloration of palms, feet and cartilage of pinna. Patient gave us history of knee joint pains and stiffness of metacarpal joints. Best corrected Visual acuity right eye was 6/6 and left eye was 6/9.
On slit lamp examination there was bluish black discoloration of episclera in the interpalpebral area both the eyes. Cornea both the eyes was normal. IOP was 14 mm Hg both eyes. Gonioscopy revealed open angles.
Fundus examination with 90 D lens showed normal optic disc and vessels. There was epiretinal membrane in both eyes ,with macular puckering in the left eye.
Systemic investigations like CBP,ESR ,CUE,SERUM URIC
ACID, ULTRASOUNDABDOMEN,ECG,LFT,RAFACTOR,C-REACTIVE PROTEIN,HbA1C were done.The urine of the patient turned cola coloured on exposure to atmosphere.
Diagnosis:ALKAPTONURIA.