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. 2016 Nov 1;10(11):SD03–SD04. doi: 10.7860/JCDR/2016/21832.8816

[Table/Fig-1]:

Table showing the comparative features of the cases reported in literature (from India) [1115].

Author and year Institution Age Clinical features Unusual features Genetic study
Eye
involvement
Renal
involvement
HK Aggarwal et al., [11] 2013 Pt.B.D.Sharma Institute of Health Sciences Rohtak 19-years-old male Retinitis pigmentosa Renal failure, bilateral kidneys revealed increased echogenicity with a loss of corticomedullary differentiation. Short metacarpals and madarosis (loss of eyebrows) Not done
NP Singh et al., [12] 1998 Maulana Azad Medical College and Associated Lok Nayak Hospital New Delhi 35-year-old male Retinitis pigmentosa Elder sister Retinitis pigmentosa Multiple corticomedullary cysts and medullary cysts in both kidneys Elder sister Renal failure Short status, kyphoscoliosis, small hands (short metacarpals) and cutis laxa (similar findings in sister) Not done
S Giridhar et al., [13] 2006 Institute of Child Health and Hospital Chennai Twins 11year females Retinitis pigmentosa Shrunken kidneys, grade III renal parenchymal disease, b/l cortico-medullary cysts Dysmorphic features (high forehead, depressed nasal bridge, micrognathia, brachydactyly, clinodactyly, sandle gap) Not done
R Janardhanan et al., [14] 1997 Medical college and hospital Trivandrum 13 year female Brother 15 year Retinitis pigmentosa Brother: Retinitis pigmentosa B/l contracted kidneys (2.3 5.3 cm) Hyperechoic; CMD lost; 3*5.1 cm; Hyperechoic CMD lost Brother: B/l renal parenchymal disease None Not done
R Hemachandra [15] 2014 Mahatma Gandhi Medical College and Research Institute, Puducherry Case I: 12 year female Case II: 16 year male Case I: Retinal dystrophy. Case II: Retinitis pigmentosa Case I: Bilateral small kidneys with increased echogenecity and few small cysts in both the kidneys. Case II: Bilaterally echogeinc kidneys with loss of corticomedullary differentiation. None Not done
Present case 2016 G.G.S. Medical College and Hospital Faridkot Elder sister 9 year Younger sister 7 year Elder sister: Pigmentary changes in the retina. Younger Sister: Pigmentary changes in the retina. Elder sister: Grade III renal parenchymal changes and bilateral cortico-medullary cysts. Younger sister: Renal parnchymal disease. None Not done